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| Possible mitochondrial disorder - nuclear genes v0.5 | PDHA1 | Ivone Leong reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.3 | PDHA1 |
Ivone Leong gene: PDHA1 was added gene: PDHA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 |
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