| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pigmentary skin disorders v0.26 | SNAI2 | Celia Moss reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.25 | SNAI2 | Tom Cullup reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.24 | SNAI2 | Catherine Snow Classified gene: SNAI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.24 | SNAI2 | Catherine Snow Gene: snai2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.23 | SNAI2 | Catherine Snow reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | SNAI2 | Rebecca Foulger Source London North GLH was added to SNAI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | SNAI2 | Rebecca Foulger reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | SNAI2 |
Rebecca Foulger gene: SNAI2 was added gene: SNAI2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAI2 were set to Piebaldism |
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