CaseLOPD-10: 2 weeks diagnosis

HPOsFreeText: GAA activity 2.5 (nmol · h−1 · mg−1), Mean percentage of normal 3.6%

GenotypingMethod: Newborn Screening Panels

Variant1: NM_000152.4:c.517_519del (p.M173del)

CAID: CA891862611 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3:c.517_519del

gnomAD: Not in gnomAD

Variant2: NM_000152.4:c.710C>T (p.Ala237Val)

ClinVar: 4035 https://www.ncbi.nlm.nih.gov/clinvar/variation/4035/

gnomAD: South Asian 1.307e-4, Overall 1.992e-5 http://gnomad.broadinstitute.org/variant/17-78081373-C-T

CaseAddInfo: Late Onset Pompe Disease