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Early onset or syndromic epilepsy v1.191 | CHRNB2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to CHRNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | CHRNB2 | Rebecca Foulger Source NHS GMS was added to CHRNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | CHRNB2 | Rebecca Foulger reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.188 | CHRNB2 | Tracy Lester reviewed gene: CHRNB2: 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: 11104662, 25717303 ; Phenotypes: Epilepsy, nocturnal frontal lobe, 3,605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | CHRNB2 | Sarah Leigh classified CHRNB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | CHRNB2 | Sarah Leigh Added gene to panel |