Molecular autopsy
Gene: ATP5A1Added new-gene-name tag, new approved HGNC gene symbol for ATP5A1 is ATP5F1ACreated: 9 May 2019, 2:59 p.m.
Tag new-gene-name tag was added to gene: ATP5A1.
Added phenotypes ?Combined oxidative phosphorylation deficiency 22 616045; ?Combined oxidative phosphorylation deficiency 22; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1
Added phenotypes ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1
gene: ATP5A1 was added gene: ATP5A1 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion). Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045