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Early onset or syndromic epilepsy v2.583 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22 616045; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Early onset or syndromic epilepsy v1.191 ATP5A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP5A1.
Early onset or syndromic epilepsy v1.190 ATP5A1 Rebecca Foulger Source NHS GMS was added to ATP5A1.
Early onset or syndromic epilepsy v1.189 ATP5A1 Rebecca Foulger reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ATP5A1 Tracy Lester reviewed gene: ATP5A1: Rating: RED; Mode of pathogenicity: ; Publications: 23599390; Phenotypes: ?Combined oxidative phosphorylation deficiency 22 616045, ?Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.35 ATP5A1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5A1.
Early onset or syndromic epilepsy v1.35 ATP5A1 Louise Daugherty commented on gene: ATP5A1
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh marked gene: ATP5A1 as ready
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh classified ATP5A1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy ATP5A1 Arianna Tucci reviewed gene: ATP5A1
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh Added gene to panel