Early onset or syndromic epilepsy
Gene: BCS1L
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
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
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 featuresCreated: 12 Nov 2018, 2:23 p.m.
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
Source Wessex and West Midlands GLH was added to BCS1L.
Source NHS GMS was added to BCS1L.
Zornitza Stark: Mitochondrial encephalopathy,
Gene: bcs1l has been classified as Green List (High Evidence).
Gene: bcs1l has been classified as Green List (High Evidence).
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
Publications for gene: BCS1L were set to
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
Phenotypes for gene: BCS1L were changed from to Mitochondrial complex III deficiency, nuclear type 1 124000
Mode of inheritance for gene: BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to BCS1L. Panel: Genetic Epilepsy Syndromes
BCS1L was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
BCS1L was created by Sarah Leigh