11
Case11: Female, 16 years report, Italy
HPOsFreeText: Height is 1.62 m, Weight is 57 kg, BMI is 21.7 kg/cm2, 7 years on ERT, Forced Vital Capacity at 102%
CaseNotHPOs: HP:0002098 (Respiratory distress)
NotHPOsFreeText: Nocturnal non-invasive ventilation
CaseAddInfo: Late Onset Pompe Disease
18
Case18: Female, 50 years onset, 53 years diagnosis, Italy
HPOsFreeText: See Group Phenotypes, ERT started at 56, GAA Activity at ~6 pmol/min/mg before ERT and ~9 after
GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing
Variant1: NM_000152.4:c.-32-13T>G
ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/
gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G
Variant2: NM_000152.4:c.1465G>A (p.Asp489Asn)
ClinVar: 92465 https://www.ncbi.nlm.nih.gov/clinvar/variation/92465/
gnomAD: European (Finnish) 4.621e-5, Overall 1.195e-5 http://gnomad.broadinstitute.org/variant/17-78084553-G-A
CaseAddInfo: Late Onset Pompe Disease
16
Case16: Female, 37 years onset, 49 years diagnosis, Italy
HPOsFreeText: See Group Phenotypes, ERT started at 50, GAA Activity at ~4 pmol/min/mg before ERT and ~11 after
GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing
Variant1: NM_000152.4:c.-32-13T>G
ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/
gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G
Variant2: NM_000152.4:c.1465G>A (p.Asp489Asn)
ClinVar: 92465 https://www.ncbi.nlm.nih.gov/clinvar/variation/92465/
gnomAD: European (Finnish) 4.621e-5, Overall 1.195e-5 http://gnomad.broadinstitute.org/variant/17-78084553-G-A
CaseAddInfo: Late Onset Pompe Disease
27/M
Patient27: Male
CasePresentingHPOs: HP:0000365
HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = ≤ 1:400, moderate periventricular white matter abnormalities (hypomyelination), progressive deterioration of MRI parameters
CaseNotHPOs: HP:0004887, HP:0025156, HP:0002355, HP:0002546, HP:0001371
NotHPOsFreeText: infusion associated reaction, heart normalization
CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 3yo, ERT at 4yo
CasePreviousTesting: same as group
CaseGenotypingMethod: same as group
Variant1: NM_000152.4(GAA):c.1465G>A (p.Asp489Asn)
ClinVar: 92465, https://www.ncbi.nlm.nih.gov/clinvar/variation/92465/
gnomAD: 0.00001195, http://gnomad.broadinstitute.org/variant/17-78084553-G-A
Variant2: NM_000152.3:c.40_47del
CAID: CA913184761, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184761
gnomAD: n/a