Case17: Male, 13 yr onset, 14 yr diagnosis, 14.3 yr report

HPOsFreeText: FVC z-score sitting -1.68 (81% pred), FVC z-score supine -1.77 (80% pred), 95% MRC Scale, 2935 CK U/l, 6.2 GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, No respiratory support

Patient2: Female, 1.5mo at diagnosis, 3mo at ERT

CasePresentingHPOs:

HPOsFreeText: classic IOPD, good response to ERT, Pompe muscle pathology score = 2.1(a), 0.5(b), Glycogen = 48.7(a), 2.7(b) Vv(PAS + /mf)%, Larger empty vacuoles = 1.7(a), 5.6(b) Vv (LEV/mf)%, Autophagic vacuoles = 0,15; 0,2 %/mf

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: biopsy taken from  musculus vastus lateralis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.1933G>A (p.Asp645Asn)

ClinVar: 188728, https://www.ncbi.nlm.nih.gov/clinvar/variation/188728/

gnomAD: 2.312e-05, http://exac.broadinstitute.org/variant/17-78086719-G-A

Variant2: NM_000152.3:c.794delG

CAID: CA658795237, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.794delG

gnomAD: n/a

Case32

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.

Variant: NM_000152.4:c.1933G>A (p.Asp645Asn)

ClinVar: 188728 https://www.ncbi.nlm.nih.gov/clinvar/variation/188728/

gnomAD: African 6.599e-5, Overall 8.250e-6 http://gnomad.broadinstitute.org/variant/17-78086719-G-A

CaseAddInfo: Infantile Onset Pompe Disease, Patient is homozygous for this variant, 1 more patient has the same genotype