Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | SLC24A1 | Achchuthan Shanmugasundram reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: 20850105; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, OMIM:613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SLC24A1 | Rebecca Foulger reviewed gene: SLC24A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SLC24A1 |
Rebecca Foulger gene: SLC24A1 was added gene: SLC24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A1 were set to 20850105 Phenotypes for gene: SLC24A1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830 |