06 Aug 2019
Early onset or syndromic epilepsy v1.191
BCKDHB
Rebecca Foulger Source Wessex and West Midlands GLH was added to BCKDHB.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
BCKDHB
Rebecca Foulger Source NHS GMS was added to BCKDHB.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
BCKDHB
Rebecca Foulger reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
BCKDHB
Tracy Lester reviewed gene: BCKDHB: 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 v1.118
BCKDHB
Rebecca Foulger Publications for gene: BCKDHB were set to 31119508
04 Jul 2019
Early onset or syndromic epilepsy v1.117
BCKDHB
Rebecca Foulger Publications for gene: BCKDHB were set to
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 v0.706
BCKDHB
Sarah Leigh Marked gene: BCKDHB as ready
12 Nov 2018
Early onset or syndromic epilepsy v0.706
BCKDHB
Sarah Leigh Added comment: 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.
12 Nov 2018
Early onset or syndromic epilepsy v0.706
BCKDHB
Sarah Leigh Gene: bckdhb has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.706
BCKDHB
Sarah Leigh Added comment: Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ib 248600
12 Nov 2018
Early onset or syndromic epilepsy v0.706
BCKDHB
Sarah Leigh Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib 248600 to Maple syrup urine disease, type Ib 248600
12 Nov 2018
Early onset or syndromic epilepsy v0.705
BCKDHB
Sarah Leigh Classified gene: BCKDHB as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.705
BCKDHB
Sarah Leigh Gene: bckdhb has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.704
BCKDHB
Sarah Leigh Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib 248600
12 Nov 2018
Early onset or syndromic epilepsy v0.701
BCKDHB
Sarah Leigh Mode of inheritance for gene: BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
08 Aug 2018
Early onset or syndromic epilepsy
BCKDHB
Zornitza Stark reviewed gene: BCKDHB
25 Jun 2018
Early onset or syndromic epilepsy
BCKDHB
Sarah Leigh Added gene to panel