Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v0.10616 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Mendeliome v0.10616 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Mendeliome v0.10616 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Spastic paraplegia 42, autosomal dominant, MIM# 612539
Mendeliome v0.10615 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Mendeliome v0.10614 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10613 SLC33A1 Zornitza Stark reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315, 19061983, 20461110; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482, Spastic paraplegia 42, autosomal dominant, MIM# 612539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC33A1 was set to Unknown