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Intellectual disability

Gene: BCKDK

Green List (high evidence)

BCKDK (branched chain ketoacid dehydrogenase kinase)
EnsemblGeneIds (GRCh38): ENSG00000103507
EnsemblGeneIds (GRCh37): ENSG00000103507
OMIM: 614901, Gene2Phenotype
BCKDK is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate gene Green.
Created: 17 Sep 2018, 10:46 a.m.
New gene added by external expert review, who notes that there are multiple unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Created: 17 Sep 2018, 10:44 a.m.
Comment on phenotypes: added phenotype and MIMid from OMIM
Created: 17 Sep 2018, 10:41 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected families reported
Created: 21 Jun 2018, 3:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency, 614923
  • Intellectual disability
OMIM
614901
Clinvar variants
Variants in BCKDK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to BCKDK.

17 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Sep 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923; Intellectual disability

17 Sep 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: BCKDK were set to 22956686, 24449431

21 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

BCKDK was added to Intellectual disability panel. Sources: Literature

21 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

BCKDK was created by Zornitza Stark