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Genetic Epilepsy

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Epilepsy well reported part of this phenotype
Sources: Expert list
Created: 14 Dec 2023, 1:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923
OMIM
614901
Clinvar variants
Variants in BCKDK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2023, 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).

15 Dec 2023, 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).

14 Dec 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: BCKDK was added gene: BCKDK was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDK were set to PMID: 22956686, PMID: 35216372, PMID: 36729635 Phenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923 Review for gene: BCKDK was set to GREEN