Early onset or syndromic epilepsy

Gene: BCS1L

I don't know

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.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR Bjornstad syndrome - SNHL and pili torti. AR GRACILE synd - neonatal metabolic disorder -severe IUGR, AR Leigh syndrome and AR mitochondrial complex III defic, nuclear type 1 (MC3DN1). Both Leigh syndrome and MC3DN1 are assoc with seizures ccording to OMIM. This gene is on the mitochondrial panel. Rahman 2012, seizures reported in ~35-60% of individuals with biochemically confirmed mito disease. In assoc with BCS1L - saeizures occasionally reported but not a major feature - socumented in 2 unrelated individuals - Fernanadez-Vizarra et al, 2007.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Leigh syndrome, 256000; Mitochondrial complex III deficiency, 124000

Publications

• 11528392

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.

Created: 12 Nov 2018, 3 p.m.

Comment on phenotypes: These phenotypes include seizures as part of their phenotypic features

Created: 12 Nov 2018, 2:23 p.m.

Green List (high evidence)

Mitochondrial encephalopathy, seizures are part of the phenotype.

Created: 8 Aug 2018, 1:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 1, MIM#124000

Variants in this GENE are reported as part of current diagnostic practice