| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.100 | HIBCH | Zornitza Stark Marked gene: HIBCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.100 | HIBCH | Zornitza Stark Gene: hibch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.100 | HIBCH | Zornitza Stark Classified gene: HIBCH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.100 | HIBCH | Zornitza Stark Gene: hibch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.99 | HIBCH |
Zornitza Stark gene: HIBCH was added gene: HIBCH was added to Dystonia - complex. Sources: Expert Review Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093 Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Review for gene: HIBCH was set to GREEN Added comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Dystonia is a feature. Sources: Expert Review |
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