06 Aug 2019
Early onset or syndromic epilepsy v1.191
BCKDHA
Rebecca Foulger Source Wessex and West Midlands GLH was added to BCKDHA.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
BCKDHA
Rebecca Foulger Source NHS GMS was added to BCKDHA.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
BCKDHA
Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
BCKDHA
Tracy Lester reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28919799; Phenotypes: Maple syrup urine disease, 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Jul 2019
Early onset or syndromic epilepsy v1.119
BCKDHA
Rebecca Foulger Publications for gene: BCKDHA were set to 2703538; 8037208; 9582350; 31119508
04 Jul 2019
Early onset or syndromic epilepsy v1.116
BCKDHA
Rebecca Foulger Publications for gene: BCKDHA were set to 2703538; 8037208; 9582350
03 Dec 2018
Early onset or syndromic epilepsy v0.1306
DBT
Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: DBT encodes the E2 subunit of the BCKD complex. The other complex subunits (BCKDHA and BCKDHB) are Green on this panel, and all 3 genes are associated with Maple syrup urine disease (MSUD, MIM:248600). Seizures are a recognised symptom of MSUD, and although there is generalized information about DBT causing intermediate forms of the disease with later-onset seizures, specific cases with DBT variants are required before promoting to Green.
12 Nov 2018
Early onset or syndromic epilepsy v0.699
BCKDHA
Sarah Leigh Marked gene: BCKDHA as ready
12 Nov 2018
Early onset or syndromic epilepsy v0.699
BCKDHA
Sarah Leigh Added comment: 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.
12 Nov 2018
Early onset or syndromic epilepsy v0.699
BCKDHA
Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.699
BCKDHA
Sarah Leigh Classified gene: BCKDHA as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.699
BCKDHA
Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.698
BCKDHA
Sarah Leigh Added comment: Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ia 248600
12 Nov 2018
Early onset or syndromic epilepsy v0.698
BCKDHA
Sarah Leigh Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia 248600 to Maple syrup urine disease, type Ia 248600
12 Nov 2018
Early onset or syndromic epilepsy v0.697
BCKDHA
Sarah Leigh Publications for gene: BCKDHA were set to
12 Nov 2018
Early onset or syndromic epilepsy v0.696
BCKDHA
Sarah Leigh Mode of inheritance for gene: BCKDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Nov 2018
Early onset or syndromic epilepsy v0.695
BCKDHA
Sarah Leigh Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia 248600
08 Aug 2018
Early onset or syndromic epilepsy
BCKDHA
Zornitza Stark reviewed gene: BCKDHA
25 Jun 2018
Early onset or syndromic epilepsy
BCKDHA
Sarah Leigh Added gene to panel