Intellectual disability syndromic and non-syndromic
Gene: BCKDK

BCKDK (branched chain ketoacid dehydrogenase kinase)
EnsemblGeneIds (GRCh38): ENSG00000103507
EnsemblGeneIds (GRCh37): ENSG00000103507
OMIM: 614901, Gene2Phenotype
BCKDK is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported. ID/autism/seizures are part of the phenotype.

Treatment available: Branched-chain amino acid supplementation: improves psychomotor/cognitive development/IQ; improves behavioural/psychiatric disturbance(s); improves systemic manifestations
Created: 5 Dec 2022, 4:37 a.m. | Last Modified: 5 Dec 2022, 4:38 a.m.

Panel Version: 0.5076

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923

Created: 5 Dec 2022, 4:37 a.m.
Last Modified: 5 Dec 2022, 4:38 a.m.
Panel version: 0.5076

Savige Judy (University of Melbourne)

Green List (high evidence)

C. As definitions A or B but in 2 or 3 unrelated cases/families with the phenotype, with the addition of convincing bioinformatic or functional evidence of causation e.g. known inborn error of metabolism with mutation in orthologous gene which is known to have the relevant deficient enzymatic activity in other species; existence of an animal model which recapitulates the human phenotype.

AND D. Evidence indicates that disease-causing variants follow a Mendelian pattern of causation appropriate for reporting in a diagnostic setting.

AND E. No convincing evidence exists or has emerged that contradicts the role of the gene in the specified phenotype.

Excellent evidence for LoF with truncating variants. Mouse model that recapitulates human disease. Mice rescued with amino acid supplementation.
Created: 5 Dec 2022, 4:14 a.m. | Last Modified: 5 Dec 2022, 4:14 a.m.

Panel Version: 0.5067

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; autism; epilepsy

Publications

PMID:16875466
PMID: 22956686

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Dec 2022, 4:14 a.m.
Last Modified: 5 Dec 2022, 4:14 a.m.
Panel version: 0.5067

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923

Tags

treatable

OMIM

614901

Clinvar variants

Variants in BCKDK

Penetrance

None

Publications

Panels with this gene