1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Transsynaptic linking of calcium channels and postsynaptic receptors at a dyadic synapse
    5
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    pmc.ncbi.nlm.nih.gov/articles/PMC13123913/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A conserved antioxidant defense at the endoplasmic reticulum membrane
    12
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    pmc.ncbi.nlm.nih.gov/articles/PMC13713018/
  4. www.sciencedirect.com www.sciencedirect.com
    Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
    2
    1. ClingenBaseline 06 Nov 2026
      1

      CaseVI,1: Early adult onset, 63 years diagnosis

      CasePresentingHPOs: HP:0003701, HP:0003327, HP:0002795, HP:0003388, HP:0003326 (Proximal muscle weakness, Axial muscle weakness, Abnormal respiration, Easy fatiguability, Myalgia)

      HPOsFreeText: GAA activity from dried blood spot: 0.24%, Forced Vital Capacity Seated: 1520 (38%)

      CaseNotHPOs: HP:0003236 (Increased serum CK)

      CaseAddInfo: Late-Onset Pompe Disease

      Individual CaseInfo ClinVarID:280063 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      VII

      CaseVII: Adolescent onset, 33 years diagnosis

      CasePresentingHPOs: HP:0003701, HP:0003236, HP:0002460, HP:0003394 (Proximal muscle weakness, Increased serum CK, Distal muscle weakness, Muscle cramps)

      HPOsFreeText: GAA activity from dried blood spot: 0.20%, Forced Vital Capacity Seated: 5260 (112%), Plasma CK 2.5-5x Normal, Vacuoles in histology

      CaseNotHPOs: HP:0002795 (Abnormal respiration)

      CaseAddInfo: Late-Onset Pompe Disease

      Individual CaseInfo ClinVarID:4027 ClinVarID:188806 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S096089661731489X
  5. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
    6
    1. ClingenBaseline 06 Nov 2026
      28/M

      Patient28: Male

      CasePresentingHPOs: HP:0004887, HP:0011471, HP:0001270, HP:0002546, HP:0000365, HP:0001371

      HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = 1:3200, infusion associated reaction, tracheostomy, heart normalization

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: variants in trans, symptom onset at 2yo, diagnosis at 4yo, ERT at 9yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)

      ClinVar: 280063, https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: 0.000003988, http://gnomad.broadinstitute.org/variant/17-78090814-G-A

      Variant2: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 279811, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: 0.00003188, http://gnomad.broadinstitute.org/variant/17-78085800-T-C

      Individual CaseInfo Variant ClinVarID:280063 ClinVar:279811 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      16/M

      Patient16: male

      CasePresentingHPOs: HP:0004887, HP:0011471, HP:0001270, HP:0002546, HP:0001371, HP:0001025

      HPOsFreeText: CRIM negative, Anti-rh GGA antibodies maximum titer = 1:102.400, immunomodulation, infusion associated reaction, tracheostomy, partial heart normalization

      CaseNotHPOs: HP:0000365

      CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 3 days, ERT at 4 days

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

      ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: 7.041e-05, http://exac.broadinstitute.org/variant/17-78078909-CT-C

      Variant2: NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)

      ClinVar: 280063, https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: 8.301e-06, http://exac.broadinstitute.org/variant/17-78090814-G-A

      Individual CaseInfo Variant ClinVarID:4033 ClinVarID:280063 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      23/F

      Patient23: Female

      CasePresentingHPOs: HP:0000365

      HPOsFreeText: CRIM positive, heart normalization, moderate periventricular white matter abnormalities (hypomyelination)

      CaseNotHPOs: HP:0004887, HP:0025156, HP:0002355, HP:0002546, HP:0001371

      Not HPOsFreeText: infusion associated reaction

      CaseAddInfo: homozygous variants in trans, symptom onset at birth, diagnosis and ERT at 1yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1933G>A (p.Asp645Asn)

      ClinVar: 188728, https://www.ncbi.nlm.nih.gov/clinvar/variation/188728/

      gnomAD: 0.000008250, http://gnomad.broadinstitute.org/variant/17-78086719-G-A

      Individual CaseInfo Variant ClinVarID:188728 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 06 Nov 2026
      11/M

      Patient11: male

      CasePresentingHPOs: HP:0002546, HP:0001371

      HPOsFreeText: CRIM positive, heart normalization, moderate periventricular white matter abnormalities (hypomyelination)

      CaseNotHPOs: HP:0004887, HP:0025156, HP:0002355, HP:0000365

      CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 12 days. Died at 78mo due to cardiorespiratory failure.

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1942G>A (p.Gly648Ser)

      ClinVar: 188902, https://www.ncbi.nlm.nih.gov/clinvar/variation/188902/

      gnomAD: 0.0001018, http://exac.broadinstitute.org/variant/17-78086728-G-A

      Variant2: NM_000152.4(GAA):c.2646+2T>A

      ClinVar: 188924, https://www.ncbi.nlm.nih.gov/clinvar/variation/188924/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:188902 ClinVarID:188924 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    5. ClingenBaseline 06 Nov 2026
      26/F

      Patient26: Female

      CasePresentingHPOs: HP:0004887, HP:0001270, HP:0001371

      HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = ≤ 1:400, heart normalization

      CaseNotHPOs: HP:0025156, HP:0002546, HP:0000365

      NotHPOsFreeText: infusion associated reaction

      CaseAddInfo: variants in trans, symptom onset at 3yo, diagnosis at 5yo, ERT at 8yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1064T>C (p.Leu355Pro)

      ClinVar: 284093, https://www.ncbi.nlm.nih.gov/clinvar/variation/284093/

      gnomAD: 0.000007972, http://gnomad.broadinstitute.org/variant/17-78082197-T-C

      Individual CaseInfo Variant ClinVarID:284093 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    6. ClingenBaseline 06 Nov 2026
      14/M

      Patient14: male

      CasePresentingHPOs: HP:0004887, HP:0040288, HP:0002546, HP:0000365

      HPOsFreeText: CRIM negative, Anti-rh GGA antibodies maximum titer = 1:204.800, immunomodulation, infusion associated reaction, able to sit independently, partial heart normalization

      CaseNotHPOs: HP:0001371

      CaseAddInfo: homozygous variants in trans. Symptom onset, diagnosis and ERT at 4yo.

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.236_246delCCACACAGTGC (p.Pro79Argfs)

      ClinVar: 371302, https://www.ncbi.nlm.nih.gov/clinvar/variation/371302/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:371302 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
    5
    1. ClingenBaseline 06 Nov 2026

      Case35: Male, 26 years report

      HPOsFreeText: ERT not started, 6 Minute Walking Test at 645 meters, Forced Vital Capacity at 101%

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.655G>A (p.Gly219Arg)

      ClinVar: 189065 https://www.ncbi.nlm.nih.gov/clinvar/variation/189065/

      gnomAD: African 4.024e-5, Overall 1.809e-5 http://gnomad.broadinstitute.org/variant/17-78079656-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:189065 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026

      Case12: Male, 45 years report

      HPOsFreeText: 5 years of ERT completed, 6 Minute Walking Test at 301 meters, Forced Vital Capacity at 13%

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.655G>A (p.Gly219Arg)

      ClinVar: 189065 https://www.ncbi.nlm.nih.gov/clinvar/variation/189065/

      gnomAD: African 4.024e-5, Overall 1.809e-5 http://gnomad.broadinstitute.org/variant/17-78079656-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:189065 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026

      Case17: Female, 49 years report

      HPOsFreeText: 2 years of ERT completed, 6 Minute Walking Test at 314 meters, Forced Vital Capacity at 54%

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1548G>A (p.Trp516Ter)

      ClinVar: 189025 https://www.ncbi.nlm.nih.gov/clinvar/variation/189025/

      gnomAD: European (Non-Finnish) 1.552e-5, Overall 7.079e-6 http://gnomad.broadinstitute.org/variant/17-78084636-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual Variant GenotypingMethod CaseInfo ClinVarID:4027 ClinVarID:189025 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 06 Nov 2026

      Case26: Female, 65 years report

      HPOsFreeText: 5 years of ERT completed, Forced Vital Capacity at 57%

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1548G>A (p.Trp516Ter)

      ClinVar: 189025 https://www.ncbi.nlm.nih.gov/clinvar/variation/189025/

      gnomAD: European (Non-Finnish) 1.552e-5, Overall 7.079e-6 http://gnomad.broadinstitute.org/variant/17-78084636-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:189025 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    5. ClingenBaseline 06 Nov 2026

      Case27: Male, 71 years report

      HPOsFreeText: 0.3 years of ERT completed, 6 Minute Walking Test at 348 meters, Forced Vital Capacity at 53%

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.2608C>T (p.Arg870Ter)

      ClinVar: 189009 https://www.ncbi.nlm.nih.gov/clinvar/variation/189009/

      gnomAD: European (Non-Finnish) 4.888e-5, Overall 2.662e-5 http://gnomad.broadinstitute.org/variant/17-78092118-C-T

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189009 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5096052/
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Late‐onset pompe disease in Iran: A clinical and genetic report
    2
    1. ClingenBaseline 06 Nov 2026
      7

      Family 7 - Patient 7

      FamilyPresentingHPOs: HP:0007340, HP:0003701, HP:0003306, HP:0002111, HP:0040081

      HPOsFreeText: muscle pathology with vacuolar myopathy with glycogen excess, myopathic muscle unit action potentials

      FamilyNotHPOs: HP:0010628, HP:0002015, HP:0003691, HP:0002650

      Ethnicity: Iranian

      ProbandLabel:

      FamilyAddInfo: male, 20yo at onset, 23yo at diagnosis, MRC sum score = 96, patient required use of NIV

      FamilyPreviousTesting: Respiratory Evaluation: FVC = 20%, CK = 2,550 U/L, muscle pathology examined, DBS enzyme activity (with inhibition) = 0.1 μmol/L/h, NCS, EMG

      FamilyGenotypingMethod: GAA analyzed with Sanger Sequencing for entire coding region and conserved exon-intron splice junctions, PCR performed for deletion screening

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 1.65e-05, http://exac.broadinstitute.org/variant/17-78092467-G-T

      Family FamilyInfo GenotypingMethod PreviousTesting Variant EnzymeActivity ClinVarID:4027 ClinVarID:578595 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      1

      Family 1 - Patient 1

      FamilyPresentingHPOs: HP:0002355, HP:0003701, HP:0040081, HP:0100284

      HPOsFreeText: myopathic muscle unit action potentials

      FamilyNotHPOs HP:0010628, HP:0002015, HP:0003691, HP:0003306, HP:0002650

      NotHPOsFreeText:

      Ethnicity: Iranian

      ProbandLabel: Patient 1, male

      FamilyAddInfo: 2yo at onset, 4yo at diagnosis, MRC sum score not available, consanguineous family

      FamilyPreviousTesting: Respiratory evaluation: FVC = 90%, CK = 2,960 U/L,DBS enzyme activity (with inhibition) = 0.3 μmol/L/h, no muscle pathology performed, cardiac evaluations, NCS, EMG

      FamilyGenotypingMethod: GAA analyzed with Sanger Sequencing for entire coding region and conserved exon-intron splice junctions, PCR performed for deletion screening

      Variant: NM_000152.4(GAA):c.854C>G (p.Pro285Arg)

      ClinVar: 225114, https://www.ncbi.nlm.nih.gov/clinvar/variation/225114/

      gnomAD: n/a

      Family FamilyInfo GenotypingMethod PreviousTesting Variant EnzymeActivity ClinVarID:255114 inferred_gene_hgnc:2214 inferred_gene_source:ClinVar GAA variant
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    onlinelibrary.wiley.com/doi/full/10.1002/mus.25413
  8. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
    3
    1. ClingenBaseline 06 Nov 2026
      P15

      Patient15: Female, 56yo

      CasePresentingHPOs: HP:0003077, HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 19yr disease duration, ERT lasted 48mo

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      P14

      Patient14: Female, 54yo

      CasePresentingHPOs: HP:0003077, HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 18yr disease duration, ERT lasted 44mo

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      P19

      Patient19: Female, 61yo

      CasePresentingHPOs: HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 2yr disease duration, ERT lasted 9mo

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.925G>A (p.Gly309Arg)

      ClinVar: 188797, https://www.ncbi.nlm.nih.gov/clinvar/variation/188797/

      gnomAD: 0.00002860, http://gnomad.broadinstitute.org/variant/17-78081665-G-A

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:188797 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0794-6
  9. www.nature.com www.nature.com
    Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
    3
    1. ClingenBaseline 06 Nov 2026
      Ten patients received concomitant immunomodulation (detailed in Supplementary Table S4); six were genotype-predicted as CRIM-negative, three were CRIM-positive, and one lacked genotype data.

      Patient 6

      Variant1: NM_000152.4(GAA):c.1292_1295dup (p.Gln433Alafs)

      ClinVar: 552165, https://www.ncbi.nlm.nih.gov/clinvar/variation/552165/

      gnomAD: 0.000004293, http://gnomad.broadinstitute.org/variant/17-78082592-C-CTGCA

      Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

      ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Individual CaseInfo Variant ClinVarID:552165 ClinVarID:4034 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      Ten patients received concomitant immunomodulation (detailed in Supplementary Table S4); six were genotype-predicted as CRIM-negative, three were CRIM-positive, and one lacked genotype data.

      Patient 7:

      Variant1: NM_000152.4(GAA):c.1933G>C (p.Asp645His)

      ClinVar: 189013, https://www.ncbi.nlm.nih.gov/clinvar/variation/189013/

      gnomAD: 0.000008250, http://gnomad.broadinstitute.org/variant/17-78086719-G-C

      Variant2: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 0.00001998, http://gnomad.broadinstitute.org/variant/17-78092467-G-T

      Individual CaseInfo Variant ClinVarID:189013 ClinVarID:578595 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      Ten patients received concomitant immunomodulation (detailed in Supplementary Table S4); six were genotype-predicted as CRIM-negative, three were CRIM-positive, and one lacked genotype data.

      Patient 10

      Variant1: NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)

      ClinVar: 280063, https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: 0.000003988, http://gnomad.broadinstitute.org/variant/17-78090814-G-A

      Variant2: NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs)

      ClinVar: 189041, https://www.ncbi.nlm.nih.gov/clinvar/variation/189041/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:280063 ClinVarID:189041 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    nature.com/articles/gim20182
  10. www.sciencedirect.com www.sciencedirect.com
    First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica
    1
    1. ClingenBaseline 06 Nov 2026
      A 50-year-old man

      Subject II-8: male, 50yo

      CasePresentingHPOs: HP:0002094, HP:0002015, HP:0003323, HP:0002878, HP:0006532, HP:0000822, HP:0005978, HP:0003119, HP:0004325, HP:0009055, HP:0012533, HP:0002540, HP:0003698, HP:0030829, HP:0003236, HP:0010899, HP:0003445, HP:0001271

      HPOsFreeText: Previously hospitalized 3 times, during the last of which he received a tracheostomy and was dependent on a ventilator. When study began, he was being treated with IV gamma-globulin therapy for likely chronic inflammatory demyelinating polyneuropathy. Motor examination showed symmetrical 2/5 proximal and 4/5 distal strength. Absent reflexes of bilateral biceps, triceps, patellar, and ankle jerk. Allodynia in soles and distal parts of both legs, normal cardiologic examination, bilateral reduced breath sounds, CK = 132 IU/L, aspartate aminotransferase = 46 IU/L, denervation and spontaneous activity with complex repetitive discharges on muscles associated with cranial nerves and cervical, thoracic, and lumbar areas. Demyelinating, mixed sensorimotor polyneuropathy with absent F wave, reduced GAA activity. 6mo after discharge with tracheostomy and ventilator support patient died from respiratory failure due to pulmonary infection.

      CaseNotHPOs: HP:0007185, HP:0001291, HP:0003487, HP:0002370, HP:0011675

      NotHPOsFreeText: Absent Hoffmann signs, no myotonic phenomenon

      CaseAddInfo: Symptoms (dyspnea, dysphagia, and muscle weakness) had been occurring for 2yrs prior to initiation of case study. based on pedigree, it is likely this patients variants are in trans

      CasePMIDs:

      CasePreviousTesting: neurological examination, motor examination, cardiologic eamination, pulmonary evaluation, lab studies (CK, AST), ECG, needle electromyogram, nerve conduction studies, DBS

      CaseGenotypingMethod: genetic analysis (method not described)

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

      ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Variant3: NM_000152.4(GAA):c.1551+42G>A

      ClinVar: 496841, https://www.ncbi.nlm.nih.gov/clinvar/variation/496841/

      gnomAD: 0.003009, http://gnomad.broadinstitute.org/variant/17-78084681-G-A

      Individual CaseInfo Variant EnzymeActivity ClinVarID:4027 ClinVarID:4034 ClinVarID:496841 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0960896617300627
  11. www.sciencedirect.com www.sciencedirect.com
    The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
    2
    1. ClingenBaseline 06 Nov 2026
      15

      Patient15: Male

      CasePresentingHPOs: HP:0002194, HP:0004887, HP:0001522, CRIM positive

      HPOsFreeText: ERT Dosage = 20mg/kg/2w, HCM reversal

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: Symptom onset at 4mo, diagnosis and ERT at 9mo, ERT lasted for 12mo, ventilation required at 10mo, died at 21mo

      CasePMIDs: 11738358

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1082C>T (p.Pro361Leu)

      ClinVar: 403712, https://www.ncbi.nlm.nih.gov/clinvar/variation/403712/

      gnomAD: 8.469e-06, http://exac.broadinstitute.org/variant/17-78082294-C-T

      Individual CaseInfo Variant ClinVarID:403712 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      14

      Patient14: Female

      CasePresentingHPOs: HP:0004887, HP:0002194, HP:0001522

      HPOsFreeText: ERT dosage = 20mg/kg/2w, was able to crawl but this ability was eventually lost, CRIM positive

      CaseNotHPOs:

      NotHPOsFreeText: no HCM reversal

      CaseAddInfo: Symptom onset at 4mo, diagnosis at 8mo, ERT at 9mo, ERT lasted for 1mo, ventilation required at 8mo, died at 10mo

      CasePMIDs: 11738358

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1802C>T (p.Ser601Leu)

      ClinVar: 194154, https://www.ncbi.nlm.nih.gov/clinvar/variation/194154/

      gnomAD: 0.00003187, http://gnomad.broadinstitute.org/variant/17-78086424-C-T

      Individual CaseInfo Variant ClinVarID:194154 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S221442691730160X
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
    9
    1. ClingenBaseline 06 Nov 2026
      c.2237G > A(p.Trp746*)

      Case11

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2237G>A (p.Trp746*)

      ClinVar: 280063 https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: European (Non-Finnish) 8.834e-6, Overall 3.988e-6 http://gnomad.broadinstitute.org/variant/17-78090814-G-A

      Variant2: NM_000152.4:c.437delT (p.Met146Argfs*7)

      ClinVar: 554096 https://www.ncbi.nlm.nih.gov/clinvar/variation/554096/

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:280063 ClinVarID:554096 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      c.1548G > A(p.Trp516*)

      Case62

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.1548G>A (p.Trp516*)

      ClinVar: 189025 https://www.ncbi.nlm.nih.gov/clinvar/variation/189025/

      gnomAD: European (Non-Finnish) 1.552e-5, Overall 7.079e-6 http://gnomad.broadinstitute.org/variant/17-78084636-G-A

      Variant2: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      CaseAddInfo: Adult Late Onset Pompe Disease, 1 person more with the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189025 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      c.1826dupA(p.Tyr609*)

      Case9

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.1826dupA (p.Tyr609*)

      ClinVar: 189144 https://www.ncbi.nlm.nih.gov/clinvar/variation/189144/

      gnomAD: European (Non-Finnish) 1.816e-5, Overall 8.159e-6 http://gnomad.broadinstitute.org/variant/17-78086447-T-TA

      Variant2: NM_000152.4:c.2238G>A (p.Trp746*)

      ClinVar: 370904 https://www.ncbi.nlm.nih.gov/clinvar/variation/370904/

      gnomAD: African 4.011e-5, Overall 1.063e-5 http://gnomad.broadinstitute.org/variant/17-78090815-G-A

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189144 ClinVarID:370904 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 06 Nov 2026
      c.1438-1G > C

      Case31

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.1438-1G>C

      ClinVar: 189184 https://www.ncbi.nlm.nih.gov/clinvar/variation/189184/

      gnomAD: African 1.150e-4, Overall 3.187e-5 http://gnomad.broadinstitute.org/variant/17-78084525-G-C

      Variant2: NM_000152.4:c.1655T>C (p.Leu552Pro)

      ClinVar: 279811 https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: European (Non-Finnish) 7.053e-5, Overall 3.188e-5 http://gnomad.broadinstitute.org/variant/17-78085800-T-C

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189184 ClinVarID:279811 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    5. ClingenBaseline 06 Nov 2026
      c.2560C > T(p.Arg854*)

      Case13

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

      ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Variant2: NM_000152.4:c.1292_1295dupTGCA (p.Gln433Alafs*74)

      ClinVar: 552165 https://www.ncbi.nlm.nih.gov/clinvar/variation/552165/

      gnomAD: African 6.992e-5, Overall 4.293e-6 http://gnomad.broadinstitute.org/variant/17-78082592-C-CTGCA

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4034 ClinVarID:552165 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    6. ClingenBaseline 06 Nov 2026
      c.1143delC(p.Ala382Leufs*10)

      Case92

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.1143delC (p.Ala382Leufs*10)

      ClinVar: 370263 https://www.ncbi.nlm.nih.gov/clinvar/variation/370263/

      gnomAD: European (Non-Finnish) 8.946e-6, Overall 4.031e-6 http://gnomad.broadinstitute.org/variant/17-78082353-AC-A

      Variant2: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      CaseAddInfo: Adult Late Onset Pompe Disease, 1 other patient has the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370263 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    7. ClingenBaseline 06 Nov 2026
      c.2242dupG (p.Glu748Glyfs*48)

      Case71

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2242dupG (p.Glu748Glyfs*48)

      ClinVar: 370651 https://www.ncbi.nlm.nih.gov/clinvar/variation/370651/

      gnomAD: European (Non-Finnish) 1.767e-5, Overall 7.975e-6 http://gnomad.broadinstitute.org/variant/17-78090813-T-TG

      Variant2: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      CaseAddInfo: Adult Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370651 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    8. ClingenBaseline 06 Nov 2026
      c.655G > A(p.Gly219Arg)

      Case48

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant: NM_000152.4:c.655G>A (p.Gly219Arg) (p.Glu176Argfs*45)

      ClinVar: 189065 https://www.ncbi.nlm.nih.gov/clinvar/variation/189065/

      gnomAD: African 4.024e-5, Overall 1.809e-5 http://gnomad.broadinstitute.org/variant/17-78079656-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Patient is homozygous for this variant

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189065 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    9. ClingenBaseline 06 Nov 2026
      c.1099T > C(p.Trp367Arg)

      Case28

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.1099T>C (p.Trp367Arg)

      ClinVar: 555820 https://www.ncbi.nlm.nih.gov/clinvar/variation/555820/

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1802C>T (p.Ser601Leu)

      ClinVar: 194154 https://www.ncbi.nlm.nih.gov/clinvar/variation/194154/

      gnomAD: East Asian 6.418e-4, Overall 3.187e-5 http://gnomad.broadinstitute.org/variant/17-78086424-C-T

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:555820 ClinVarID:194154 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/
  13. www.sciencedirect.com www.sciencedirect.com
    Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation
    2
    1. ClingenBaseline 06 Nov 2026
      2/M

      Patient2: Male, African American, 11yo

      CasePresentingHPOs:

      HPOsFreeText: IOPD, rhGAA IgG antibody titer = 800, CRIM positive

      CaseNotHPOs:

      NotHPOsFreeText: no infusion associated reactions

      CaseAddInfo: 15mo at diagnosis, 16mo at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.1447G>A (p.Gly483Arg)

      ClinVar: 285157, https://www.ncbi.nlm.nih.gov/clinvar/variation/285157/

      Individual CaseInfo ClinVarID:285157 ClinVarID:4027 Variant inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      4/M

      Patient4: Male, Caucasian, 12yo

      CasePresentingHPOs: HP:0001025 (hives)

      HPOsFreeText: IOPD, rhGAA IgG antibody titer = 400, CRIM positive

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous, 2.7mo at diagnosis, 2.9mo at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1933G>A (p.Asp645Asn)

      ClinVar: 188728, https://www.ncbi.nlm.nih.gov/clinvar/variation/188728/

      gnomAD: 0.000008250, https://gnomad.broadinstitute.org/variant/17-78086719-G-A

      Individual CaseInfo Variant ClinVarID:188728 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719217312325
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pro-longevity compounds extend Caenorhabditis elegans male lifespan and reproductive healthspan
    5
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    pmc.ncbi.nlm.nih.gov/articles/PMC13638962/
  15. jnnp.bmj.com jnnp.bmj.com
    LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
    3
    1. ClingenBaseline 06 Nov 2026
      12

      Case#: Patient 12, male

      CasePresentingHPOs: HP:0003236

      CaseAddInfo: 42yo at onset, 46yo at diagnosis

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      ClinVar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NM_000152.4(GAA):c.1438-2A>G

      ClinVar: 526521, https://www.ncbi.nlm.nih.gov/clinvar/variation/526521/

      gnomAD: n/a

      Individual CaseInfo ClinVarID:4027 ClinVarID:526521 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      3

      Case#: Patient 3, female

      CasePresentingHPOs: HP:0003236

      CaseAddInfo: 29yo at onset, 39yo at diagnosis

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      ClinVar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NM_000152.4(GAA):c.784G>A (p.Glu262Lys)

      ClinVar: 188806, https://www.ncbi.nlm.nih.gov/clinvar/variation/188806/

      gnomAD: 1.66e-05, http://exac.broadinstitute.org/variant/17-78081447-G-A

      Individual CaseInfo ClinVarID:4027 ClinVarID:188806 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      17

      Case#: Patient 17, female

      CasePresentingHPOs: HP:0003236

      CaseAddInfo: 38yo at onset, 39yo at diagnosis

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      ClinVar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)

      ClinVar: 280063, https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: 8.301e-06, http://exac.broadinstitute.org/variant/17-78090814-G-A

      Individual CaseInfo ClinVarID:4027 ClinVarID:280063 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    jnnp.bmj.com/content/87/1/5
  16. journals.plos.org journals.plos.org
    Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy
    1
    1. ClingenBaseline 06 Nov 2026
      Detailed characteristics of these patients

      Patient6: male, 50yo, adult onset

      CasePresentingHPOs:

      HPOsFreeText: LOPD, BMI = 26.3 / 26.6 / n-a, required use of wheelchair and BiPAP, WGMS = 3 / 4 / n-a

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.1143delC (p.Ala382Leufs)

      ClinVar: 370263, https://www.ncbi.nlm.nih.gov/clinvar/variation/370263/

      gnomAD: 0.000004031, http://gnomad.broadinstitute.org/variant/17-78082353-AC-A

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:370263 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    journals.plos.org/plosone/article
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pompe disease in Austria: clinical, genetic and epidemiological aspects
    4
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    ncbi.nlm.nih.gov/pmc/articles/PMC5760608/
  18. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Baicalein Enhances Longevity and Healthspan of C. elegans Through the Insulin/IGF‐1 Signaling Pathway
    11
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    pmc.ncbi.nlm.nih.gov/articles/PMC12710425/
  19. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    1
    1. ClingenBaseline 06 Nov 2026
      PD01

      Patient1: Female, northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 1.65e-05, http://exac.broadinstitute.org/variant/17-78092467-G-T

      Variant2: NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)

      ClinVar: 4023, https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      Individual CaseInfo Variant ClinVarID:578595 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424
  20. link.springer.com link.springer.com
    Genetic basis of hypertrophic cardiomyopathy in children
    1
    1. ClingenBaseline 06 Nov 2026
      1

      Case1: 0.2 years diagnosis, Germany

      CasePresentingHPOs: HP:0031185, HP:0001635, HP:0001252, HP:0001324, HP:0003236, HP:0001639 (Increased NT-proBNP level, Cardiac failure, Muscular hypotonia, Muscle weakness, Increased serum CK, Hypertrophic cardiomyopathy)

      HPOsFreeText: 3442 BNP (pg/ml), 4.71 IVS (d) z score, 4.29 IVS (s) z score, Heart Failure at NYHA Class 3

      NotHPOsFreeText: No left-ventricular outflow tract obstruction

      CaseAddInfo: Infantile-Onset Pompe Disease

      Individual CaseInfo ClinVarID:371302 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    link.springer.com/article/10.1007/s00392-018-1354-8
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
    9
    1. ClingenBaseline 06 Nov 2026
      33

      Patient33: Female, 24 years report, 3 year onset

      CasePresentingHPOs: HP:0001324 (Muscle weakness)

      HPOsFreeText: GAA activity 9.6% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:370124 ClinVarID:189065 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      12

      Patient12: Male, 19 years report, 13 years onset

      CasePresentingHPOs: HP:0001324 (Muscle weakness)

      HPOsFreeText: GAA activity 9.9% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:188809 ClinVar:553981 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      29

      Patient29: Female, 30 years onset

      CasePresentingHPOs: HP:0001324, HP:0001288 (Muscle weakness, Gait disturbance)

      HPOsFreeText: GAA activity 4% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      CaseInfo Individual ClinVarID:370637 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    9. ClingenBaseline 06 Nov 2026
      38

      Patient38: Male, 20 years report, 2 year onset

      CasePresentingHPOs: HP:0001324, HP:0002098, HP:0002527 (Muscle weakness, Respiratory distress, Falls)

      HPOsFreeText: GAA activity 2.7% from leukocyte, Wheelchair needed, Respiratory Assistance needed

      CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)

      NotHPOsFreeText: N/A

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:495664 ClinVarID:550825 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
  22. www.nature.com www.nature.com
    Apical size reduction by macropinocytosis alleviates tissue crowding
    1
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    nature.com/articles/s41467-025-60724-2
  23. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Effects of a higher dose of alglucosidase alfa on ventilator‐free survival and motor outcome in classic infantile Pompe disease: an open‐label single‐center study
    1
    1. ClingenBaseline 06 Nov 2026
      4

      Patient4: Male, 2.2mo at ERT start, 1.7yo at study end

      CasePresentingHPOs:

      HPOsFreeText: treated with 20mg/kg/2wks, patient had 3 infusion associated reactions

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

      ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: 0.00009959, http://gnomad.broadinstitute.org/variant/17-78078909-CT-C

      Individual CaseInfo Variant ClinVarID:456368 ClinVarID:4033 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    onlinelibrary.wiley.com/doi/full/10.1007/s10545-015-9912-y
  24. www.sciencedirect.com www.sciencedirect.com
    Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
    2
    1. ClingenBaseline 06 Nov 2026
      Supplement Table 1)

      Patient12: 8yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 26days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.1411_1414delGAGA (p.Glu471Profs)

      ClinVar: 188874, https://www.ncbi.nlm.nih.gov/clinvar/variation/188874/

      gnomAD: 1.688e-05, http://exac.broadinstitute.org/variant/17-78083827-CGAGA-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:188874 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      Supplement Table 1)

      Patient6: 7yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA = 20 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 3mo at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.1411_1414delGAGA (p.Glu471Profs)

      ClinVar: 188874, https://www.ncbi.nlm.nih.gov/clinvar/variation/188874/

      gnomAD: 1.688e-05, http://exac.broadinstitute.org/variant/17-78083827-CGAGA-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:188874 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S2214426917300423
  25. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Hyperactive ice‐binding proteins stabilize cell membranes and improve resistance to dehydration stress in Caenorhabditis elegans
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13398936/
  26. www.biorxiv.org www.biorxiv.org
    Mapping chromothripsis across human cancer cell lines reveals genome evolution and therapeutic vulnerabilities
    1
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    biorxiv.org/content/10.64898/2026.10.30.763015v1
  27. www.biorxiv.org www.biorxiv.org
    Differential endothelial cell remodeling in Down syndrome and APP duplication drives distinct blood–brain barrier dysfunction
    4
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    biorxiv.org/content/10.64898/2026.10.29.762815v1
  28. link.springer.com link.springer.com
    Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
    1
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    link.springer.com/article/10.1007/s10545-018-0243-7
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
    2
    1. ClingenBaseline 06 Nov 2026
      20 mg/kg (N = 16)

      Case22HPOsFreeText: 20 mg/kg GAA treatment, GAA activity at 7 mU/U hexosaminidas, GAA activity at 25% lower limit of normal

      CaseAddInfo: Late Onset Pompe Disease

      CaseGenotypingMethod: Method not described, only that the diagnosis was "confirmed … based on 2 GAA gene mutations"

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 https://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.2608C>T (p.Arg870Ter)

      ClinVar: 189009 https://www.ncbi.nlm.nih.gov/clinvar/variation/189009/

      gnomAD: European (Non-Finnish) 4.888e-5, Overall 2.662e-5 https://gnomad.broadinstitute.org/variant/17-78092118-C-T

      CaseAddInfo: Patient is compound heterozygous for these variants

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189009 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      10 mg/kg (N = 3)

      Case6HPOsFreeText: 10 mg/kg GAA treatment, GAA activity at 1 pmol/punch/hr, GAA activity at 10% lower limit of normal

      CaseAddInfo: Late Onset Pompe Disease

      CaseGenotypingMethod: Method not described, only that the diagnosis was "confirmed … based on 2 GAA gene mutations"

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 https://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.2242dupG (p.Glu748Glyfs)

      ClinVar: 370651 https://www.ncbi.nlm.nih.gov/clinvar/variation/370651/

      gnomAD: European (Non-Finnish) 1.767e-5, Overall 7.975e-6 https://gnomad.broadinstitute.org/variant/17-78090813-T-TG

      CaseAddInfo:

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370651 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5571484/
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    7
    1. ClingenBaseline 06 Nov 2026

      CaseOPTPD-79: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.75 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2238G>C (p.Trp746Cys)

      ClinVar: 265160 https://www.ncbi.nlm.nih.gov/clinvar/variation/265160/

      gnomAD: European (Non-Finnish) 5.673e-4, Overall 3.083e-4 http://gnomad.broadinstitute.org/variant/17-78090815-G-C

      CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with one copy, 5 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:265160 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026

      CaseOPOPD-53: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.23 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1843G>A (p.Gly615Arg)

      ClinVar: 188786 https://www.ncbi.nlm.nih.gov/clinvar/variation/188786/

      gnomAD: East Asian 2.223e-4, Overall 1.640e-5 http://gnomad.broadinstitute.org/variant/17-78086465-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 1 other patient has the same genotype

      Individual CaseInfo VariantEvidence CaseGenotypingMethod ClinVarID:188786 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026

      CaseOPOPD-6: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.75 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.569G>A (p.Arg190His)

      ClinVar: 188809 https://www.ncbi.nlm.nih.gov/clinvar/variation/188809/

      gnomAD: African 6.166e-5, Overall 1.602e-5 http://gnomad.broadinstitute.org/variant/17-78079570-G-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation, 2 others have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:188809 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 06 Nov 2026

      CaseOPOPD-44: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.51 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1222A>G (p.Met408Val)

      ClinVar: 371235 https://www.ncbi.nlm.nih.gov/clinvar/variation/371235/

      gnomAD: European (Non-Finnish) 1.790e-5, Overall 8.058e-6 http://gnomad.broadinstitute.org/variant/17-78082523-A-G

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:371235 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    5. ClingenBaseline 06 Nov 2026

      CaseIP2-3: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.04 umol/hr/L, Serum CK at 809 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1082C>T (p.Pro361Leu)

      ClinVar: 403712 https://www.ncbi.nlm.nih.gov/clinvar/variation/403712/

      gnomAD: Latino 5.798e-5, Overall 1.203e-5 http://gnomad.broadinstitute.org/variant/17-78082294-C-T

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 2 and 3 are in trans

      Individual CaseInfo Variant GenotypingMethod ClinVarID:403712 ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    6. ClingenBaseline 06 Nov 2026

      CaseOPOPD-39: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.56 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.841C>T (p.Arg281Trp)

      ClinVar: 283894 https://www.ncbi.nlm.nih.gov/clinvar/variation/283894/

      gnomAD: European (Non-Finnish) 4.051e-4, Overall 2.051e-4 http://gnomad.broadinstitute.org/variant/17-78081504-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:283894 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    7. ClingenBaseline 06 Nov 2026

      CaseOPOPD-65: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.77 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2185delC (p.Leu729Trpfs)

      ClinVar: 370552 https://www.ncbi.nlm.nih.gov/clinvar/variation/370552/

      gnomAD: Not in gnomAD

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 1 other patient has this genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370552 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/
  31. www.biorxiv.org www.biorxiv.org
    Molecular control of replication licensing speed by c-MYC
    10
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    biorxiv.org/content/10.64898/2026.10.29.762773v1
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Childhood Pompe disease: clinical spectrum and genotype in 31 patients
    3
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    ncbi.nlm.nih.gov/pmc/articles/PMC4870771/
  33. www.sciencedirect.com www.sciencedirect.com
    Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years
    3
    1. ClingenBaseline 06 Nov 2026
      10a

      Patient10: Male, 45yo at diagnosis, 58yo at ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:3200, enzyme (μmol/g/h) = 0.39 (3-20), mobility aid required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText: NIV not required

      CaseAddInfo: 27yr disease duration, patient discontinued ERT, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.258dupC (p.Asn87Glnfs)

      ClinVar: 282842, https://www.ncbi.nlm.nih.gov/clinvar/variation/282842/

      gnomAD: 2.653e-05, http://exac.broadinstitute.org/variant/17-78078636-T-TC

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:282842 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      20

      Patient20: Female, 46yo at diagnosis and ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:12,800, enzyme (μmol/g/h) = 0.64 (3-20), NIV required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText: mobility aid not required

      CaseAddInfo: 26yr disease progression, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.2242dupG (p.Glu748Glyfs)

      ClinVar: 370651, https://www.ncbi.nlm.nih.gov/clinvar/variation/370651/

      gnomAD: 1.66e-05, http://exac.broadinstitute.org/variant/17-78090813-T-TG

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:370651 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      19

      Patient19: Male, 54yo at diagnosis and ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:6400, enzyme (μmol/g/h) = 0.41 (3-20), NIV and mobility aid required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 35yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.2242dupG (p.Glu748Glyfs)

      ClinVar: 370651, https://www.ncbi.nlm.nih.gov/clinvar/variation/370651/

      gnomAD: 1.66e-05, http://exac.broadinstitute.org/variant/17-78090813-T-TG

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:370651 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719216300129
  34. www.biorxiv.org www.biorxiv.org
    Validated LC-MS/MS quantification of kynurenine pathway metabolites and pathway-balance ratios in brain tissue and microglial culture supernatant: application to neonatal stroke
    11
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    biorxiv.org/content/10.64898/2026.10.29.762714v1
  35. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant
    1
    1. ClingenBaseline 06 Nov 2026
      Patient 3

      Case3: Female, Caucasian, United States, 8 days diagnosis, 2 weeks onset, 1.2 years report

      CasePresentingHPOs: HP:0003236, HP:0002194, HP:0003749, HP:0003093, HP:0003273, HP:0003184, HP:0008796, HP:0006380, HP:0001435, HP:0003484, HP:0006589, HP:0003725, HP:0008981, HP:0001270, HP:0001290, HP:0002376 (Increased serum CK, Delayed gross motor development, Pelvic girdle muscle weakness, Limited hip extension, Hip flexion contractures, Decreased hip abduction, Externally rotated hips, Knee flexion contracture, Abnormality of the shoulder girdle musculature, Upper limb muscle weakness, Flaring of lower rib cage, Firm muscles, Calf muscle hypertrophy, Motor delay, Generalized hypotonia, Developmental regression)

      HPOsFreeText: Had hyperCKemia since the second week of life (605 IU/L, day 8 of life; 513 IU/L, age 3 months), At 5 months she was unable to hold head up to 90 degrees in prone, unable to sit with slight support but unable to prop-sit, and unable to bear weight on hands in prone with AIMS score at the 10th percentile, PT evaluation at age 6 months revealed progression of delay in gross motor milestones, with AIMS score at the 3rd percentile, Unable to sit upright or unsupported and unable to push up on arms in prone, scored only 20% on Dimension B (Sitting) of the GMFM, Imbalanced weakness was evident in trunk and pelvic musculature with predominant active use of, and positioning in, hip flexion/abduction/external rotation in supine, prone and sitting, decreased use of hip extensors and abdominals, and limitation in the use of abdominal obliques for active trunk rotation, Adduction, Tightness in hip flexors, IT bands, and plantar flexors present, Weakness in abdominals, and in hip extension, ankle dorsiflexion, and ankle eversion persisted at 16 months after walking began, ALT 198 U/L (Normal 5–40 U/L), AST 139 U/L (Normal 15–41 U/L), ALP 248 U/L (Normal 24–170 U/L), Urinary Glc4 7.3 mmol/mol creatinine (Normal ≤8.3 mmol/mol creatinine)

      Individual CaseInfo ClinVarID:4027 ClinVarID:495665 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5722675/
  36. www.biorxiv.org www.biorxiv.org
    Single-nucleus multiome profiling reveals osteocyte-centered remodeling of human subchondral bone across osteoarthritis severity
    1
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    biorxiv.org/content/10.64898/2026.10.29.762653v1
  37. www.biorxiv.org www.biorxiv.org
    An endothelial-specific TIE2-L914F mouse model reveals cellular mechanisms of venous malformation progression and recapitulates the patients’ response to targeted therapy
    1
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    biorxiv.org/content/10.64898/2026.10.29.762550v1
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
    2
    1. ClingenBaseline 06 Nov 2026
      PD/VOUS-4

      CasePD/VOUS-4: 2 weeks diagnosis

      HPOsFreeText: GAA activity 5.3 (nmol · h−1 · mg−1), Mean percentage of normal 7.5%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.664G>A (p.Val222Met)

      ClinVar: 290223 https://www.ncbi.nlm.nih.gov/clinvar/variation/290223/

      gnomAD: South Asian 5.393e-3, Overall 6.931e-4 http://gnomad.broadinstitute.org/variant/17-78079665-G-A

      CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:290223 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      PD/VOUS-1

      CasePD/VOUS-1: 3 weeks diagnosis

      HPOsFreeText: GAA activity 3.6 (nmol · h−1 · mg−1), Mean percentage of normal 5.0%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.664G>A (p.Val222Met)

      ClinVar: 290223 https://www.ncbi.nlm.nih.gov/clinvar/variation/290223/

      gnomAD: South Asian 5.393e-3, Overall 6.931e-4 http://gnomad.broadinstitute.org/variant/17-78079665-G-A

      CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:290223 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5413112/
  39. www.biorxiv.org www.biorxiv.org
    Systemic Analysis of Patient Derived Esophageal Epithelial Organoid Model Reveals Cell State Heterogeneity and Conservation of Differentiation Hierarchy
    2
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    biorxiv.org/content/10.64898/2026.10.29.762343v1
  40. www.sciencedirect.com www.sciencedirect.com
    Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
    2
    1. ClingenBaseline 06 Nov 2026
      6

      Case6: Male, 36 years onset, 45 years diagnosis, 68 years report, France

      CasePresentingHPOs: HP:0002540, HP:0002878, HP:0004887, HP:0002093 (Inability to walk, Respiratory failure, Respiratory failure requiring assisted ventilation, Respiratory insufficiency)

      HPOsFreeText: Lost ambulation at 54 years, Started invasive ventilation at 52 years, Started ERT given every other week at a dose of 20 mg/kg at 63 years for 56 months, Peak Anti-rhGAA antibodies at 1:51,200, FVC at 0.7/18 (L / % expected), MIP at 9 (cm H2O), MEP at 13 (cm H2O), Time off ventilation stayed constant at 240 min, Total Motor Function Measure from 49 to 35, 6MWT from 50 to 10 meters

      CaseNotHPOs: HP:0030148 (Heart murmur)

      NotHPOsFreeText: No adverse reaction to ERT was recorded

      CaseAddInfo: Late Onset Pompe Disease, Patient died before publication

      Individual CaseInfo ClinVarID:4027 ClinVarID:189065 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      8

      Case8: Female, 36 years onset, 43 years diagnosis, 60 years report, France

      CasePresentingHPOs: HP:0002540, HP:0002878, HP:0004887 (Inability to walk, Respiratory failure, Respiratory failure requiring assisted ventilation)

      HPOsFreeText: Lost ambulation at 51 years, Started invasive ventilation at 53 years, Started ERT given every other week at a dose of 20 mg/kg at 55 years for 63 months, Peak Anti-rhGAA antibodies at 1:12,800, Time off ventilation stayed constant at 0 min, Total Motor Function Measure from 45 to 40, 6MWT stayed constant at 0 meters

      CaseNotHPOs: HP:0030148 (Heart murmur)

      NotHPOsFreeText: No adverse reaction to ERT was recorded

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo ClinVarID:4027 ClinVarID:189065 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719217303360
  41. www.biorxiv.org www.biorxiv.org
    GolgiFold: A Structural Predictome of Human Golgi Protein Complexes
    9
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    biorxiv.org/content/10.64898/2026.10.29.758816v1
  42. www.sciencedirect.com www.sciencedirect.com
    Novel GAA mutations in patients with Pompe disease
    3
    1. ClingenBaseline 06 Nov 2026
      2/b

      Case#: 2/b, age 11, age 5 (report)

      DiseaseAssertion: Pompe Disease

      FamilyInfo: Family 2, no further information

      CasePresenting HPOs:HP:0002878, HP:0012378, HP:0003546, HP:0001324 (Respiratory failure, fatigue, exercise intolerance, muscle weakness)

      CaseHPOFreeText: valvular myopathy, biopsy with vacuolar myopathy with PAS +

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: single gene sequencing/analysis, 105.01 NaG/AaGIA, 90.98% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range

      Variants:

      Variant 1:NM_000152.5(GAA):c.377G>A (p.Trp126Ter)

      ClinVar: 932904

      Variant 2: NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 279811

      ParentalGenotypes: N/A

      PreviouslyPublished: N/A

      Individual CaseInfo DiseaseEntity:PompeDisease InheritancePattern:AutosomalRecessive Gene:GAA PreviousTesting:GAAAnalysis Zygosity:Heterozygous ClinvarID:932904 ClinvarID:279811 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      6/b

      Case#: 6/b, age 40, age 36 (report)

      DiseaseAssertion: gray zone (Pompe Disease)

      FamilyInfo: Family 6, no further information

      CasePresenting HPOs: HP:0001288 (Impaired gait)

      CaseHPOFreeText: Progressive worsening muscle weakness, vacuolar myopathy biopsy PAS +

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: single gene sequencing/analysis, the results of (NaG/AaGIA > 40 and %INH < 87) or (NaG/AaGIA < 40 and %INH > 87) are considered to be within a gray zone.

      Variants:

      Variant 1: NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)

      ClinVar: 550327

      Variant 2:NM_000152.5(GAA):c.-32-13T>G

      ClinVar: 4027

      ParentalGenotypes: N/A

      PreviouslyPublished: N/A

      Individual CaseInfo Gene:GAA PreviousTesting:GAAAnalysis Zygosity:Heterozygous ClinvarID:4027 ClinvarID:550327 DiseaseEntity:Unknown inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      5/a

      Case#: 5/a, age 6, age 1 (report)

      DiseaseAssertion: Pompe Disease

      FamilyInfo: Family 5, no further information

      CasePresenting HPOs: HP:0001290, HP:0001639 (hypotonia, hypertrophic cardiomyopathy)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: single gene sequencing/analysis, 94.50 NaG/AaGIA, 94.31% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range

      Variants:

      Variant 1:NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)

      ClinVar: 371226

      Variant 2:NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)

      ClinVar: 371226

      ParentalGenotypes: N/A

      PreviouslyPublished: N/A

      Individual CaseInfo DiseaseEntity:PompeDisease InheritancePattern:AutosomalRecessive Gene:GAA PreviousTesting:GAAAnalysis Zygosity:Homozygous ClinvarID:371226 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0378111915001584
  43. www.sciencedirect.com www.sciencedirect.com
    Quantification of muscle pathology in infantile Pompe disease
    2
    1. ClingenBaseline 06 Nov 2026
      P8

      Patient8: Male, 1mo at diagnosis, 4mo at ERT

      CasePresentingHPOs:

      HPOsFreeText: classic IOPD, poor response to ERT, Pompe muscle pathology score = 3.5, Glycogen = 28.4 Vv(PAS + /mf)%, larger empty vacuoles = 46.8 Vv (LEV/mf)%, Autophagic vacuoles = 0,2 %/mf

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous, biopsy taken from  musculus vastus lateralis

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 1.65e-05, http://exac.broadinstitute.org/variant/17-78092467-G-T

      Individual Variant CaseInfo ClinVarID:578595 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      P4

      Patient4: Male, 2mo at diagnosis, 2.5mo at ERT

      CasePresentingHPOs:

      HPOsFreeText: classic IOPD, poor response to ERT, Pompe muscle pathology score = 4.1, Glycogen = 40.3 Vv(PAS + /mf)%, larger empty vacuoles = 52.2 Vv (LEV/mf)%, Autophagic vacuoles = 0 %/mf

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: biopsy taken from  musculus vastus lateralis

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2213G>A (p.Trp738Ter)

      ClinVar: 370222, https://www.ncbi.nlm.nih.gov/clinvar/variation/370222/

      gnomAD: n/a

      Variant2: NM_000152.4:c.delExon18

      ClinVar: 4031 https://www.ncbi.nlm.nih.gov/clinvar/variation/4031/

      gnomAD: n/a

      Individual Variant CaseInfo ClinVarID:370222 ClinVarID:4031 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0960896616307891
  44. www.biorxiv.org www.biorxiv.org
    Tailocin as an alternative weapon to type VI secretion system in bee gut symbionts
    1
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    biorxiv.org/content/10.64898/2026.10.28.762571v1
  45. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    2
    1. ClingenBaseline 06 Nov 2026
      14

      Patient14: 48yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0004944

      HPOsFreeText: GAA = 6.5%, BMI = 20.3, MCA M1 tract aneurysm (2mm), normal CT

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 28yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      12

      Patient12: 53yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002315

      HPOsFreeText: morning headache, GAA = 5%, BMI = 27.4, left ventricular artery dominant, subcortical white matter lacunes

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 11yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.670C>T (p.Arg224Trp)

      ClinVar: 189188, https://www.ncbi.nlm.nih.gov/clinvar/variation/189188/

      gnomAD: 2.53e-05, http://exac.broadinstitute.org/variant/17-78079671-C-T

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:189188 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    link.springer.com/article/10.1007/s10545-015-9913-x
  46. www.biorxiv.org www.biorxiv.org
    Live Spatial Transcriptomics Enables Longitudinal Tissue Mapping
    1
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    biorxiv.org/content/10.64898/2026.10.28.761959v1
  47. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Three cases of multi‐generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/ajmg.a.38369
  48. 54.241.53.176 54.241.53.176
    2026.10.28.26366400.full-html.html
    13
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    54.241.53.176/783adee5a5e964a34470c327276503fdc3a9c7b2/2026.10.28.26366400.full-html.html
  49. www.biorxiv.org www.biorxiv.org
    Chikungunya virus live-cell reporter systems reveal cell-type-dependent antiviral responses to ribavirin
    2
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    biorxiv.org/content/10.64898/2026.10.27.762381v1
  50. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    4
    1. ClingenBaseline 06 Nov 2026
      In the present study, we describe the clinical course and provide a molecular analysis of another 25 mainland Chinese patients with IOPD, and we identified c.2662G > T (p.Glu888X) as the most common mutation in northern Chinese patients. These data collectively lay a foundation for understanding the clinical and genetic features of mainland Chinese patients with IOPD.

      GroupPresentingHPOs: HP:0001324, HP:0001270, HP:0002205, HP:0002098, HP:0001635, HP:0001640, HP:0011968

      HPOsFreeText: IOPD, reduced GAA activity, paucity of movements

      GroupNotHPOs:

      NumberMales: 14

      NumberFemales: 11

      CountryOrigin: mainland China; 12 patients from southern China, 13 from northern China

      Ethnicity: Chinese

      Race: Chinese

      AgeRange: median age at symptom onset = 3.4mo, median age at diagnosis = 4.9mo

      *TotalNumber: 25

      FamilyInfo: Parents of those individuals with mutations were sequenced

      NoFamily: n/a

      GroupAddInfo: all patients diagnosed with IOPD between 2013 and 2016 at Shanghai Children's Medical Center. Of the 24 untreated patients, non survived beyond 1.5yrs, only surviving (Patient 25) was 7mo at last follow-up.

      GroupPreviousTesting: IOPD diagnosed via reduced GAA enzyme activity in leukocytes or DBS (PMID: 16702880)

      GroupGenotypingMethod: DNA isolated from blood samples, coding exons (2-20) and intron/exon boundaries of GAA gene amplified via PCR (primers: PMID: 10338092), resulting DNA was sequenced with ABI3730XL sequencer then was analyzed with Mutation Survey or DNA Variant Analysis software, novel mutations were screened in 60 normal individuals (120 alleles) via direct sequencing and no novel variants were found among these suggesting those found in study patients are uncommon polymorphisms.

      fragments containing a mutation in the patients were amplified and sequenced for the corresponding parents

      Phylogenetic conservation of missense mutations analyzed with ClustalX program, and pathogenicity of novel variants predicited with MutationTaster, sorting intolerant from tolerant (SIFT), and PolyPhen-2

      Variant: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      this was identified (by present study) as the most common variant in northern Chinese patients, heterozygous for 5 patients, homozygous for one patient

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 1.65e-05, http://exac.broadinstitute.org/variant/17-78092467-G-T

      Group Phenotypes Demographics PreviousTesting GenotypingMethod EnzymeActivity Variant ClinVarID:578595 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      PD23

      Patient23: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1411_1414delGAGA (p.Glu471Profs)

      ClinVar: 188874, https://www.ncbi.nlm.nih.gov/clinvar/variation/188874/

      gnomAD: 1.688e-05, http://exac.broadinstitute.org/variant/17-78083827-CGAGA-C

      Variant2: NM_000152.4(GAA):c.2024_2026delACA (p.Asn675del)

      ClinVar: 189006, https://www.ncbi.nlm.nih.gov/clinvar/variation/189006/

      gnomAD: 2.105e-05, http://exac.broadinstitute.org/variant/17-78086806-CACA-C

      Individual CaseInfo Variant ClinVarID:188874 ClinVarID:189006 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      PD08

      Patient8: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1411_1414delGAGA (p.Glu471Profs)

      ClinVar: 188874, https://www.ncbi.nlm.nih.gov/clinvar/variation/188874/

      gnomAD: 1.688e-05, http://exac.broadinstitute.org/variant/17-78083827-CGAGA-C

      Individual CaseInfo Variant ClinVarID:188874 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 06 Nov 2026
      PD05

      Patient5: Male, northern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 1.65e-05, http://exac.broadinstitute.org/variant/17-78092467-G-T

      Individual CaseInfo Variant ClinVarID:578595 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424
  51. www.biorxiv.org www.biorxiv.org
    Algorithmic Geometry Shapes the Biological Meaning of Thalamocortical Structural Covariance
    1
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    biorxiv.org/content/10.64898/2026.10.27.762356v1
  52. www.nature.com www.nature.com
    Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy
    1
    1. ClingenBaseline 06 Nov 2026
      Here, we investigated anti-rhGAA antibody formation in a cohort of 73 adult Pompe patients during a period of 3 years of ERT. We measured their neutralizing effect on GAA enzymatic activity and cellular uptake and their impact on clinical outcome.

      GroupPresentingHPOs: HP:0005952, HP:0030197

      HPOsFreeText: LOPD confirmed by enzyme analysis in leukocytes or fibroblasts and mutation analysis, median GAA activity in leukocytes = 1.0 nmol glucose/mg hour, median GAA activity in fibroblasts = 12.9 nmol 4MU/mg hour, median MRC sum score = 80.8, 7 patients had total wheelchair dependence, 17 patients had partial wheelchair dependence, median upright FVC = 71.9%, median supine FVC = 54.0%, 4 patients required invasive ventilation, 18 required NIV, 13 patients experienced infusion associated reactions

      GroupNotHPOs:

      NotHPOsFreeText: no ERT treatments prior to study, no pregnant patients

      NumberMales: 37

      NumberFemales: 36

      CountryOrigin: n/a

      Ethnicity: n/a

      Race: n/a

      AgeRange: at symtom onset = 1.4-62.6yrs, at diagnosis = 1.4-72.7yrs, at ERT start = 26.2-74.0yrs

      TotalNumber: 73

      FamilyInfo: n/a

      NoFamily: n/a

      GroupAddInfo: all patients received ERT of 20mg/kg/2wk alglucosidase alfa intravenoulsy, minimum 5 months of treatment. Median duration of disease = 8.2yrs

      GroupPreviousTesting: anti-rhGAA antibody titers determined in plasma or serum using ELISA, neutralizing effects of antibodies determined by addition of alglucosidase alfa and patient serum to medium of GAA-deficient fibroblasts then by measurement of GAA activity in cells and medium, manual muscle testing to assess skeletal muscle strength, FVC in upright and supine positions, 46 patients developed anti-rhGAA titers about background of 1:250 (16 high, 29 intermediate, 28 low to no)

      GroupGenotypingMethod: mutation analysis (PMID: 18425781)

      Variant1: NM_000152.4(GAA):c.-32-13T>G this was carried by all but 1 patient

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      The following are the four most common variants on the second allele

      Variant2: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

      ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: 7.041e-05, http://exac.broadinstitute.org/variant/17-78078909-CT-C

      Variant3: NC_000017.11:g.(?80118193)(80118357_?)del

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Variant4: NM_000152.4(GAA):c.1548G>A (p.Trp516Ter)

      ClinVar: 189025, https://www.ncbi.nlm.nih.gov/clinvar/variation/189025/

      gnomAD: n/a

      Variant5: NM_000152.4(GAA):c.925G>A (p.Gly309Arg)

      ClinVar: 188797, https://www.ncbi.nlm.nih.gov/clinvar/variation/188797/

      gnomAD: 4.609e-05, http://exac.broadinstitute.org/variant/17-78081665-G-A

      Group Phenotypes Demographics GenotypingMethod PreviousTesting Variant EnzymeActivity ClinVarID:4027 ClinVarID:4033 ClinVarID:456368 ClinVarID:189025 ClinVarID:188797 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    nature.com/articles/gim201670
  53. www.biorxiv.org www.biorxiv.org
    Keratin 17 Defines an Epithelial-Mesenchymal Transition-Associated Migratory Cell State in Pancreatic Ductal Adenocarcinoma
    2
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    biorxiv.org/content/10.64898/2026.10.27.762113v1
  54. www.biorxiv.org www.biorxiv.org
    Myogenic and neural transcriptional circuitry determines PAX3::FOXO1-driven initiation of rhabdomyosarcoma
    2
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    biorxiv.org/content/10.64898/2026.10.27.761987v1
  55. www.biorxiv.org www.biorxiv.org
    Multi-region two-photon calcium imaging in freely moving animals
    3
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    biorxiv.org/content/10.64898/2026.10.27.760324v2
  56. www.sciencedirect.com www.sciencedirect.com
    Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease
    1
    1. ClingenBaseline 06 Nov 2026
      5

      Case5: Female, 43 years report, Italy

      CasePresentingHPOs: HP:0002355, HP:0003551, HP:0002098 (Difficulty walking, Difficulty climbing stairs, Respiratory distress)

      HPOsFreeText: Height is 1.68 m, Weight is 80 kg, BMI is 28.3 kg/cm2, 7 years on ERT, Forced Vital Capacity at 64%, Nocturnal non-invasive ventilation

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo ClinVarID:4027 ClinVarID:280063 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0960896616310252
  57. www.medrxiv.org www.medrxiv.org
    Integrated Genomic and Immune Profiling Reveals PIK3CA-Mutant HPV16-Positive Cervical Cancer as a Clinically Aggressive and Immunologically Distinct Subtype in Patients from Eastern India
    7
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    medrxiv.org/content/10.64898/2026.10.27.26366457v1
  58. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
    1
    1. ClingenBaseline 06 Nov 2026
      3

      Patient3: male, German

      CasePresentingHPOs: HP:0003677, HP:0003236, HP:0003325, HP:0003327

      HPOsFreeText: CK < 10x increase , CK = 1729 U/L, reduced alpha-glucosidase activity, treated with ERT

      CaseNotHPOs: HP:0002093, HP:0003457

      CaseAddInfo: onset after 30yo, previously diagnosed with Brugada Syndrome, but Pompe was confirmed via Sanger Sequencing. Asymptomatic brother also diagnosed with Pompe.

      CasePreviousTesting: same as group, EMG

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2331+2T>A

      ClinVar: 371281, https://www.ncbi.nlm.nih.gov/clinvar/variation/371281/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Individual CaseInfo Variant EnzymeActivity ClinVarID:371281 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-017-0722-1
  59. www.biorxiv.org www.biorxiv.org
    Tau is an m6A-associated RNA binding protein that causes RNA dysregulation in disease
    1
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    biorxiv.org/content/10.64898/2026.10.26.762095v1