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Early onset or syndromic epilepsy v1.191 CHRNA2 Rebecca Foulger Source Wessex and West Midlands GLH was added to CHRNA2.
Early onset or syndromic epilepsy v1.190 CHRNA2 Rebecca Foulger Source NHS GMS was added to CHRNA2.
Early onset or syndromic epilepsy v1.189 CHRNA2 Rebecca Foulger reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CHRNA2 Tracy Lester reviewed gene: CHRNA2: 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: 16826524 , 25770198 ; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4,610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh classified CHRNA2 as Green List (high evidence)
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh commented on CHRNA2
Early onset or syndromic epilepsy CHRNA2 Sarah Leigh Added gene to panel