Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Congenital nystagmus v0.97 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Congenital nystagmus v0.97 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Congenital nystagmus v0.97 RAB27A Zornitza Stark Classified gene: RAB27A as Red List (low evidence)
Congenital nystagmus v0.97 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Congenital nystagmus v0.96 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.89 RAB27A Belinda Chong reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.4 RAB27A Zornitza Stark Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A
Congenital nystagmus v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR