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Intellectual disability - microarray and sequencing v2.468 BCKDK Louise Daugherty Source Victorian Clinical Genetics Services was added to BCKDK.
Intellectual disability - microarray and sequencing v2.427 BCKDK Louise Daugherty Classified gene: BCKDK as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.427 BCKDK Louise Daugherty Added comment: 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.
Intellectual disability - microarray and sequencing v2.427 BCKDK Louise Daugherty Gene: bckdk has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.426 BCKDK Louise Daugherty edited their review of gene: BCKDK: Added comment: 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.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v2.426 BCKDK Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIMid from OMIM
Intellectual disability - microarray and sequencing v2.426 BCKDK Louise Daugherty Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923; Intellectual disability
Intellectual disability - microarray and sequencing v2.425 BCKDK Louise Daugherty Publications for gene: BCKDK were set to 22956686, 24449431
Intellectual disability - microarray and sequencing BCKDK Zornitza Stark Added gene to panel