Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7 614076 AR to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Congenital nystagmus v0.152 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Congenital nystagmus v0.151 DTNBP1 Zornitza Stark Classified gene: DTNBP1 as Green List (high evidence)
Congenital nystagmus v0.151 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.4 DTNBP1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1
Congenital nystagmus v0.0 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
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