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| Mitochondrial disorders v1.425 | ABCB6 | Sarah Leigh Phenotypes for gene: ABCB6 were changed from to Dyschromatosis universalis hereditaria 3 615402; Microphthalmia, isolated, with coloboma 7 614497; Pseudohyperkalemia, familial, 2, due to red cell leak 609153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.425 | ABCB6 | Sarah Leigh Publications for gene: ABCB6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | ABCB6 | Sarah Leigh reviewed gene: ABCB6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Dyschromatosis universalis hereditaria 3 615402, Microphthalmia, isolated, with coloboma 7 614497, Pseudohyperkalemia, familial, 2, due to red cell leak 609153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | ABCB6 |
Sarah Leigh gene: ABCB6 was added gene: ABCB6 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ABCB6 was set to |
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