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| Pyruvate dehydrogenase (PDH) deficiency v1.15 | ISCA2 | Sarah Leigh Publications for gene: ISCA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v1.14 | ISCA2 | Sarah Leigh Phenotypes for gene: ISCA2 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370; multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | ISCA2 | Ivone Leong reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | ISCA2 |
Ivone Leong gene: ISCA2 was added gene: ISCA2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 |
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