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Early onset or syndromic epilepsy v1.191 NACC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NACC1.
Early onset or syndromic epilepsy v1.190 NACC1 Rebecca Foulger Source NHS GMS was added to NACC1.
Early onset or syndromic epilepsy v1.189 NACC1 Rebecca Foulger edited their review of gene: NACC1: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 NACC1 Tracy Lester reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy NACC1 Sarah Leigh Added gene to panel