CasePD/Pathogenic-10: 2 weeks diagnosis

HPOsFreeText: GAA activity 5.5 (nmol · h−1 · mg−1), Mean percentage of normal 7.8%

GenotypingMethod: Newborn Screening Panels

Variant1: NM_000152.4:c.271G>A (p.Asp91Asn)

ClinVar: 4020 https://www.ncbi.nlm.nih.gov/clinvar/variation/4020/

gnomAD: European (Non-Finnish) 0.03291, Overall 0.02049 http://gnomad.broadinstitute.org/variant/17-78078656-G-A

Variant2: NM_000152.4:c.2161G>T (p.Glu721Ter)

CAID: CA401370611 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2161G%3ET

gnomAD: Not in gnomAD

Variant3: NM_000152.4:c.2237G>T (p.Trp746Leu)

ClinVar: 284776 https://www.ncbi.nlm.nih.gov/clinvar/variation/284776/

gnomAD: European (Non-Finnish) 1.244e-4, Overall 7.798e-5 http://gnomad.broadinstitute.org/variant/17-78090814-G-T

CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 2 and 3 are in cis

CaseLOPD-15: 2 weeks diagnosis

HPOsFreeText: GAA activity 3.6 (nmol · h−1 · mg−1), Mean percentage of normal 5.1%

GenotypingMethod: Newborn Screening Panels

Variant1: NM_000152.4:c.271G>A (p.Asp91Asn)

ClinVar: 4020 http://www.ncbi.nlm.nih.gov/clinvar/variation/4020

gnomAD: European (Non-Finnish) 0.03291, Overall 0.02049 http://gnomad.broadinstitute.org/variant/17-78078656-G-A

Chromosomal code not provided

Variant2: NP_000143.2:p.V740Gfs*55

ClinVar: N/A

gnomAD: N/A

Chromosomal code not provided and typo likely

Variant3: NP_000143.2:p.T234 mol/L

ClinVar: N/A

gnomAD: N/A

CaseAddInfo: Late Onset Pompe Disease, Nomenclature claims Variant 1 and 2 are in cis