Date Panel Item Activity
3 actions
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