Activity

Filter

Cancel
Date Panel Item Activity
4 actions
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