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Early onset or syndromic epilepsy v2.583
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ATP5A1
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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
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Early onset or syndromic epilepsy v1.191
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ATP5A1
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Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP5A1.
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Early onset or syndromic epilepsy v1.190
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ATP5A1
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Rebecca Foulger Source NHS GMS was added to ATP5A1.
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Early onset or syndromic epilepsy v1.189
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ATP5A1
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Rebecca Foulger reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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Early onset or syndromic epilepsy v1.188
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ATP5A1
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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
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Early onset or syndromic epilepsy v1.35
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ATP5A1
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Louise Daugherty Tag new-gene-name tag was added to gene: ATP5A1.
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Early onset or syndromic epilepsy v1.35
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ATP5A1
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Louise Daugherty commented on gene: ATP5A1
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Early onset or syndromic epilepsy
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ATP5A1
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Sarah Leigh marked gene: ATP5A1 as ready
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Early onset or syndromic epilepsy
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ATP5A1
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Sarah Leigh classified ATP5A1 as Amber List (moderate evidence)
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Early onset or syndromic epilepsy
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ATP5A1
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Arianna Tucci reviewed gene: ATP5A1
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Early onset or syndromic epilepsy
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ATP5A1
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Sarah Leigh Added gene to panel
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