Case#: P 15, female. 4.7 months old when started ERT (Died at 8.1 months old)

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0100806

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

CaseHPOFreeText: Sepsis, Asystolia, Port infection and AR IV were complications during ERT

Required tube feeding

No motor activity reached

CaseNotHPOs: N/A

CaseNotHPOFreeText: Did not required ventilation

CasePreviousTesting: CRIM status was negative

Antibody titer was unknown

Variant: NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)

ClinVar: 370357

CAID: CA16041895

gnomAD: N/A

ParentalGenotype: Both the paternal and maternal allele carried the variant c.1687C>T (p.Gln563Ter)

PreviouslyPublished: N/A

Case25

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.722_723delTT (p.Phe241Cysfs*88)

CAID: CA658795235 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.722_723delTT

gnomAD: Not in gnomAD

Variant2: NM_000152.4:c.1687C>T (p.Gln563*)

ClinVar: 370357 https://www.ncbi.nlm.nih.gov/clinvar/variation/370357/

gnomAD: Not in gnomAD

CaseAddInfo: Infantile Onset Pompe Disease