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Intellectual disability syndromic and non-syndromic

Gene: BCKDK

Green List (high evidence)

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

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

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

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

History Filter Activity

5 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bckdk has been classified as Green List (High Evidence).

5 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923

5 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCKDK were set to

5 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BCKDK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: BCKDK.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCKDK was added gene: BCKDK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BCKDK was set to Unknown