Patient11: male

CasePresentingHPOs: HP:0002546, HP:0001371

HPOsFreeText: CRIM positive, heart normalization, moderate periventricular white matter abnormalities (hypomyelination)

CaseNotHPOs: HP:0004887, HP:0025156, HP:0002355, HP:0000365

CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 12 days. Died at 78mo due to cardiorespiratory failure.

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.1942G>A (p.Gly648Ser)

ClinVar: 188902, https://www.ncbi.nlm.nih.gov/clinvar/variation/188902/

gnomAD: 0.0001018, http://exac.broadinstitute.org/variant/17-78086728-G-A

Variant2: NM_000152.4(GAA):c.2646+2T>A

ClinVar: 188924, https://www.ncbi.nlm.nih.gov/clinvar/variation/188924/

gnomAD: n/a

CasePD/Pathogenic-2: 3 weeks diagnosis

HPOsFreeText: GAA activity 8.8 (nmol · h−1 · mg−1), Mean percentage of normal 12.4%

GenotypingMethod: Newborn Screening Panels

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.2065G>A (p.Glu689Lys)

ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

Variant3: NM_000152.4:c.2646+2T>A

ClinVar: 188924 https://www.ncbi.nlm.nih.gov/clinvar/variation/188924/

gnomAD: Not in gnomAD

CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis