| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pigmentary skin disorders v0.27 | HPS1 |
Catherine Snow Added phenotypes HERMANSKY-PUDLAK SYNDROME 1; HPS1 for gene: HPS1 Publications for gene HPS1 were changed from to 9497254 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.25 | HPS1 | Tom Cullup reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497254; Phenotypes: HERMANSKY-PUDLAK SYNDROME 1, HPS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | HPS1 | Rebecca Foulger Source London North GLH was added to HPS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | HPS1 | Rebecca Foulger reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | HPS1 |
Rebecca Foulger gene: HPS1 was added gene: HPS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||