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Autism

Gene: BCKDK

Amber List (moderate evidence)

BCKDK (branched chain ketoacid dehydrogenase kinase)
EnsemblGeneIds (GRCh38): ENSG00000103507
EnsemblGeneIds (GRCh37): ENSG00000103507
OMIM: 614901, Gene2Phenotype
BCKDK is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/BCKDK
Created: 1 Apr 2019, 11:26 a.m.

History Filter Activity

1 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene BCKDK were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

29 Mar 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to BCKDK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BCKDK was added gene: BCKDK was added to Autism. Sources: SFARI Mode of inheritance for gene: BCKDK was set to