Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Aminoacidopathy v1.0 | BCKDK | Zornitza Stark Tag treatable tag was added to gene: BCKDK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v0.7 | BCKDK | Bryony Thompson Marked gene: BCKDK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v0.7 | BCKDK | Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v0.7 | BCKDK | Bryony Thompson Publications for gene: BCKDK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v0.0 | BCKDK |
Bryony Thompson gene: BCKDK was added gene: BCKDK was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDK were set to branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 |