7 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
    1
    1. ClingenBaseline 23 Oct 2026
      c.2815_2816delGT(p.Val939fs*78)

      Case43

      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.2815_2816delGT (p.Val939fs*78)

      ClinVar: 371481 https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: East Asian 1.631e-4, Overall 1.194e-5 http://gnomad.broadinstitute.org/variant/17-78093082-CTG-C

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

      CAID: 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

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/
  3. 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
    2
    1. ClingenBaseline 22 Oct 2026

      CaseOPOPD-75: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.83 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.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481 https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: East Asian 1.631e-4, Overall 1.194e-5 http://gnomad.broadinstitute.org/variant/17-78093082-CTG-C

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 2 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:371481 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 22 Oct 2026

      CasePDC-9: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.98, MS/MS ennzyme activity at 0.83

      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.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481 https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD:East Asian 1.631e-4, Overall 1.194e-5 http://gnomad.broadinstitute.org/variant/17-78093082-CTG-C

      CaseAddInfo: Patient is either a carrier or has a pseudodeficency allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/
  4. www.sciencedirect.com www.sciencedirect.com
    Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
    1
    1. ClingenBaseline 22 Oct 2026
      Supplement Table 1)

      Patient9: 2yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 40 EOW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 14days 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.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    sciencedirect.com/science/article/pii/S2214426917300423
  5. 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
    3
    1. ClingenBaseline 21 Oct 2026
      PD12

      Patient12: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.2585del

      CAID: CA913184734, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184734

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant CA913184734 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 21 Oct 2026
      PD17

      Patient17: Female, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      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.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 21 Oct 2026
      PD19

      Patient19: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      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.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481, https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: 1.653e-05, http://exac.broadinstitute.org/variant/17-78093082-CTG-C

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424