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Newborns main panel

Gene: BCKDK

Green List (high evidence)
BCKDK (branched chain ketoacid dehydrogenase kinase)
EnsemblGeneIds (GRCh38): ENSG00000103507
EnsemblGeneIds (GRCh37): ENSG00000103507
OMIM: 614901, Gene2Phenotype
BCKDK is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
BCKDK curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency for gene: BCKDK

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency for gene: BCKDK

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency for gene: BCKDK

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to BCKDK. Added phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency for gene: BCKDK Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency for gene: BCKDK

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: BCKDK was added gene: BCKDK was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal