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| Pyruvate dehydrogenase (PDH) deficiency v1.32 | ECHS1 | Arina Puzriakova Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563 to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v1.7 | ECHS1 | Sarah Leigh Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | ECHS1 | Ivone Leong reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | ECHS1 |
Ivone Leong gene: ECHS1 was added gene: ECHS1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 |
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