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  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
    1
    1. ClingenBaseline 24 Oct 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:10471 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S221442691730160X
  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 23 Oct 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:10471 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 22 Oct 2026

      CaseOPOPD-43: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.20 umol/hr/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.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:403712 ClinVarID:92467 inferred_gene_hgnc:10471 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/