06 Aug 2019
Early onset or syndromic epilepsy v1.191
BCS1L
Rebecca Foulger Source Wessex and West Midlands GLH was added to BCS1L.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
BCS1L
Rebecca Foulger Source NHS GMS was added to BCS1L.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
BCS1L
Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
12 Nov 2018
Early onset or syndromic epilepsy v0.721
BCS1L
Sarah Leigh Marked gene: BCS1L as ready
12 Nov 2018
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.
12 Nov 2018
Early onset or syndromic epilepsy v0.721
BCS1L
Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.721
BCS1L
Sarah Leigh Classified gene: BCS1L as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.721
BCS1L
Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
12 Nov 2018
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
12 Nov 2018
Early onset or syndromic epilepsy v0.719
BCS1L
Sarah Leigh Publications for gene: BCS1L were set to
12 Nov 2018
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
12 Nov 2018
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
12 Nov 2018
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
12 Nov 2018
Early onset or syndromic epilepsy v0.709
BCS1L
Sarah Leigh Mode of inheritance for gene: BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
08 Aug 2018
Early onset or syndromic epilepsy
BCS1L
Zornitza Stark reviewed gene: BCS1L
25 Jun 2018
Early onset or syndromic epilepsy
BCS1L
Sarah Leigh Added gene to panel