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Mitochondrial disorders v1.451 | SLC33A1 | Sarah Leigh Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration 614482; Spastic paraplegia 42, autosomal dominant 612539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.450 | SLC33A1 | Sarah Leigh Publications for gene: SLC33A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.423 | SLC33A1 | Sarah Leigh reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, Spastic paraplegia 42, autosomal dominant 612539 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.422 | SLC33A1 |
Sarah Leigh gene: SLC33A1 was added gene: SLC33A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC33A1 was set to |