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

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