CaseOPTPD-77: Male, Taiwan, Birth diagnosis

HPOsFreeText: GAA (MS/MS) enzyme activity at 0.61 umol/hr/L

GenotypingMethod: GAA Gene Sequencing and PCR Amplification

Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

Variant2: NM_000152.4:c.2014C>T (p.Arg672Trp)

ClinVar: 188773 https://www.ncbi.nlm.nih.gov/clinvar/variation/188773/

gnomAD: South Asian 3.355e-5, Overall 8.290e-6 http://gnomad.broadinstitute.org/variant/17-78086800-C-T

CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with one copy

Case20: Female, 63 years report

HPOsFreeText: 9 years of ERT completed, 6 Minute Walking Test at 10 meters, Forced Vital Capacity at 57%

GenotypingMethod: GAA Gene Sequencing

Variant1: NM_000152.4:c.1748C>T (p.Ser583Phe)

CAID: CA401369174 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1748C%3ET

gnomAD: Not in gnomAD

Variant2: NM_000152.4:c.2014C>T (p.Arg672Trp)

ClinVar: 188773 https://www.ncbi.nlm.nih.gov/clinvar/variation/188773/

gnomAD: South Asian 3.355e-5, Overall 8.290e-6 http://gnomad.broadinstitute.org/variant/17-78086800-C-T

CaseAddInfo: Late Onset Pompe Disease

Patient1: female, 29yo, juvenile onset

CasePresentingHPOs:

HPOsFreeText: LOPD, BMI = 19.6;20.3;21, BiPAP use required at last follow-up, WGMS = 3;3;4

CaseNotHPOs: HP:0002355

NotHPOsFreeText:

CaseAddInfo:

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.2014C>T (p.Arg672Trp)

ClinVar: 188773, https://www.ncbi.nlm.nih.gov/clinvar/variation/188773/

gnomAD: 0.000008290, http://gnomad.broadinstitute.org/variant/17-78086800-C-T

Variant2: NM_000152.3:c.1703A>T

CAID: CA401369027, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401369027

gnomAD: n/a