| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Albinism or congenital nystagmus v0.17 | DTNBP1 | Jonathan Callaway reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 7 614076 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.16 | DTNBP1 |
Ivone Leong Source Expert Review Amber was added to DTNBP1. Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.15 | DTNBP1 |
Ivone Leong gene: DTNBP1 was added gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||