6 Matching Annotations
  1. Oct 2026
  2. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    6
    1. ClingenBaseline 25 Oct 2026
      7

      Patient7: 71yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002315, HP:0004887, HP:0000822, HP:0003141, HP:0002870, HP:0020038

      HPOsFreeText: morning headache, GAA = 7%, BMI = 28.3, temporo-insular lacunes

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 18yr 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_000152.3:c.2530_2541del

      CAID: CA658795292, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795292

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 CA658795292 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 25 Oct 2026
      5

      Patient5: 36yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0001513, HP:0002637

      HPOsFreeText: GAA = 4.6%, BMI = 35.1, normal CTA, right temporal pole ischaemia

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 4yr 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_000152.3:c.2530_2541del

      CAID: CA658795292, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795292

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 CA658795292 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 24 Oct 2026
      6

      Patient6: 47yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0020038

      HPOsFreeText: GAA = 7%, BMI = 27.5, normal CT

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 14yr 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_000152.3:c.2530_2541del

      CAID: CA658795292, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795292

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 CA658795292 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    4. ClingenBaseline 24 Oct 2026
      18

      Patient18: 40yo

      CasePresentingHPOs: HP:0003325

      HPOsFreeText: GAA = 5%, smoker, BMI = 16.3, normal CTA and CT

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 4yr 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_000152.3:c.2530_2541del

      CAID: CA658795292, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795292

      gnomAD: n/a

      Individual CaseInfo Variant EnzymeActivity ClinVarID:4027 CA658795292 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    5. ClingenBaseline 22 Oct 2026
      19

      Patient19: 55yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002315, HP:0004887

      HPOsFreeText: morning headache, GAA = 6%, BMI = 25, normal CTA, temporo-insular lacunes

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 3yr disease duration, variants in cis

      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_000152.3:c.2530_2541del

      CAID: CA658795292, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795292

      gnomAD: n/a

      Individual CaseInfo Variant EnzymeActivity ClinVarID:4027 CA658795292 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    6. ClingenBaseline 21 Oct 2026
      16

      Patient16: 16yo

      CasePresentingHPOs: HP:0003325, HP:0020038

      HPOsFreeText: GAA = 4.5%, BMI = 21.4, fetal origin of right posterior cerebral artery, normal CT

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 6yr 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_000152.3:c.2530_2541del

      CAID: CA658795292, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795292

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 CA658795292 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    link.springer.com/article/10.1007/s10545-015-9913-x