Case#: P 14, Male, 1.5 months old when started ERT (Died at 41.8 months old), German

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0002090

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Pneumonia)

CaseHPOFreeText: Pneumonia and deterioration were complications during ERT

Required ventilation

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required tube feeding

CasePreviousTesting: CRIM Status and Antibody titer are unknown

Variant: NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)

ClinVar:<br /> 558604

CAID: CA8815561

gnomAD: MAF=0.00005554 in East Asian

ParentalGenotype: Both the paternal and maternal allele carry the variant c.1978C>T (p.Arg660Cys)

PreviouslyPublished: N/A

Patient16: Female, 36 years report, 28 years onset

CasePresentingHPOs: HP:0001324 (Muscle weakness)

HPOsFreeText: GAA activity 1% from a dried blood spot

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

NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

CaseAddInfo: LOPD

Case10

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.1978C>T (p.Arg660Cys)

ClinVar: 558604 https://www.ncbi.nlm.nih.gov/clinvar/variation/558604/

gnomAD: East Asian 5.554e-5, Overall 4.142e-6 http://gnomad.broadinstitute.org/variant/17-78086764-C-T

Variant2: NM_000152.4:c.2221G>A (p.Asp741Asn)

ClinVar: 571521 https://www.ncbi.nlm.nih.gov/clinvar/variation/571521/

gnomAD: East Asian 1.087e-4, Overall 7.971e-6 http://gnomad.broadinstitute.org/variant/17-78090798-G-A

CaseAddInfo: Infantile Onset Pompe Disease