7
Case7: 0.1 years diagnosis, Germany
CasePresentingHPOs: HP:0001635, HP:0001252, HP:0001324, HP:0003236, HP:0001639 (Cardiac failure, Muscular hypotonia, Muscle weakness, Increased serum CK, Hypertrophic cardiomyopathy)
HPOsFreeText: 56 BNP (pg/ml), 6.01 IVS (d) z score, 6.45 IVS (s) z score, Heart Failure at NYHA Class 1, Left-ventricular outflow tract obstruction
CaseAddInfo: Infantile-Onset Pompe Disease
P2
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
P18
Patient18: Male, 49yo
CasePresentingHPOs:
HPOsFreeText: LOPD
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: 13yr disease duration, ERT lasted 84mo
CasePMIDs:
CasePreviousTesting: same as group
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.-32-13T>G
Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/
gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G
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