Early onset or syndromic epilepsy

Gene: BCKDHA

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 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

• 28919799

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in unrelated cases of Maple syrup urine disease, Classic type Ia 248600.

Created: 12 Nov 2018, 2:08 p.m.

Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ia 248600

Created: 12 Nov 2018, 2:07 p.m.

Green List (high evidence)

Seizures are part of the phenotype.

Sorry, this gene is associated with type Ia, same MIM#.

Created: 8 Aug 2018, 1:13 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