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Early onset or syndromic epilepsy v1.191 SYNJ1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SYNJ1.
Early onset or syndromic epilepsy v1.190 SYNJ1 Rebecca Foulger Source NHS GMS was added to SYNJ1.
Early onset or syndromic epilepsy v1.189 SYNJ1 Rebecca Foulger edited their review of gene: SYNJ1: 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 SYNJ1 Tracy Lester reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27435091; Phenotypes: Epileptic encephalopathy, early infantile, 617389, Parkinson disease 20, early-onset, 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy SYNJ1 Sarah Leigh Added gene to panel