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Early onset or syndromic epilepsy v1.191 BCKDHA Rebecca Foulger Source Wessex and West Midlands GLH was added to BCKDHA.
Early onset or syndromic epilepsy v1.190 BCKDHA Rebecca Foulger Source NHS GMS was added to BCKDHA.
Early onset or syndromic epilepsy v1.189 BCKDHA Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v1.119 BCKDHA Rebecca Foulger Publications for gene: BCKDHA were set to 2703538; 8037208; 9582350; 31119508
Early onset or syndromic epilepsy v1.116 BCKDHA Rebecca Foulger Publications for gene: BCKDHA were set to 2703538; 8037208; 9582350
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.
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Marked gene: BCKDHA as ready
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.
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Classified gene: BCKDHA as Green List (high evidence)
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
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
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
Early onset or syndromic epilepsy v0.697 BCKDHA Sarah Leigh Publications for gene: BCKDHA were set to
Early onset or syndromic epilepsy v0.696 BCKDHA Sarah Leigh Mode of inheritance for gene: BCKDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Early onset or syndromic epilepsy BCKDHA Zornitza Stark reviewed gene: BCKDHA
Early onset or syndromic epilepsy BCKDHA Sarah Leigh Added gene to panel