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| Pyruvate dehydrogenase (PDH) deficiency v1.13 | ISCA1 | Sarah Leigh Publications for gene: ISCA1 were set to 29767723; PMID: 28356563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v1.12 | ISCA1 | Sarah Leigh Phenotypes for gene: ISCA1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613; multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.5 | ISCA1 | Ellen McDonagh Marked gene: ISCA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.5 | ISCA1 | Ellen McDonagh Gene: isca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.3 | ISCA1 | Ivone Leong reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28356563, 29767723; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pyruvate dehydrogenase (PDH) deficiency v0.2 | ISCA1 |
Ivone Leong gene: ISCA1 was added gene: ISCA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 29767723; PMID: 28356563 Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 |
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