Activity
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| Pyruvate dehydrogenase (PDH) deficiency v1.10 | HIBCH | Sarah Leigh Phenotypes for gene: HIBCH were changed from 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620; 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | HIBCH | Ivone Leong reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | HIBCH |
Ivone Leong gene: HIBCH was added gene: HIBCH was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 |
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