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Early onset or syndromic epilepsy v1.191 ATP1A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A3.
Early onset or syndromic epilepsy v1.190 ATP1A3 Rebecca Foulger Source NHS GMS was added to ATP1A3.
Early onset or syndromic epilepsy v1.189 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 25656163, 24739246, 29291920, 30392841 ; Phenotypes: Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome,601338, Dystonia-12, 128235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy ATP1A3 Sarah Leigh Added gene to panel