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Early onset or syndromic epilepsy v1.191 BCS1L Rebecca Foulger Source Wessex and West Midlands GLH was added to BCS1L.
Early onset or syndromic epilepsy v1.190 BCS1L Rebecca Foulger Source NHS GMS was added to BCS1L.
Early onset or syndromic epilepsy v1.189 BCS1L Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 BCS1L Tracy Lester reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528392; Phenotypes: Bjornstad syndrome, 262000, GRACILE syndrome, 603358, Leigh syndrome, 256000, Mitochondrial complex III deficiency, 124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Marked gene: BCS1L as ready
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for GRACILE syndrome 603358. At least 5 variants reported in 3 unrelated cases.
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Classified gene: BCS1L as Green List (high evidence)
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.720 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000 to Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000; GRACILE syndrome 603358
Early onset or syndromic epilepsy v0.719 BCS1L Sarah Leigh Publications for gene: BCS1L were set to
Early onset or syndromic epilepsy v0.712 BCS1L Sarah Leigh Added comment: Comment on phenotypes: Both of these phenotypes include seizures as part of their phenotypic features
Early onset or syndromic epilepsy v0.712 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from Mitochondrial complex III deficiency, nuclear type 1 124000 to Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000
Early onset or syndromic epilepsy v0.710 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from to Mitochondrial complex III deficiency, nuclear type 1 124000
Early onset or syndromic epilepsy v0.709 BCS1L Sarah Leigh Mode of inheritance for gene: BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy BCS1L Zornitza Stark reviewed gene: BCS1L
Early onset or syndromic epilepsy BCS1L Sarah Leigh Added gene to panel