Early onset or syndromic epilepsy
Gene: BCKDHB
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 maple syrup urine disease type 1a - caused by variants in BCKDHA, BCKDHB and DBT. Major clinical features are mental and physical retardation, feeding problems and a maple syrup odour to urine. Classic MSUD - symptoms from 4-7 dys. Seizures and coma usually occur followed by death if untreated. All 3 genes have been assoc with classic MSUD and variants reported in them as pathogenic.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
Maple syrup urine disease, 248600
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 5 unrelated cases of Maple syrup urine disease, Classic type Ib 248600.Created: 12 Nov 2018, 2:17 p.m.
Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ib 248600Created: 12 Nov 2018, 2:16 p.m.
Seizures are part of the phenotype.Created: 8 Aug 2018, 1:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type Ib, MIM#248600
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to BCKDHB.
Source NHS GMS was added to BCKDHB.
Publications for gene: BCKDHB were set to 31119508
Publications for gene: BCKDHB were set to
Zornitza Stark: Seizures are part of the pheno
Gene: bckdhb has been classified as Green List (High Evidence).
Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib 248600 to Maple syrup urine disease, type Ib 248600
Gene: bckdhb has been classified as Green List (High Evidence).
Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib 248600
Mode of inheritance for gene: BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to BCKDHB. Panel: Genetic Epilepsy Syndromes
BCKDHB was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
BCKDHB was created by Sarah Leigh