Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Congenital nystagmus v0.114 RDH5 Zornitza Stark Marked gene: RDH5 as ready
Congenital nystagmus v0.114 RDH5 Zornitza Stark Gene: rdh5 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.114 RDH5 Zornitza Stark Phenotypes for gene: RDH5 were changed from Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy to Fundus albipunctatus, MIM# 136880
Congenital nystagmus v0.113 RDH5 Zornitza Stark Publications for gene: RDH5 were set to
Congenital nystagmus v0.112 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.111 RDH5 Zornitza Stark Classified gene: RDH5 as Red List (low evidence)
Congenital nystagmus v0.111 RDH5 Zornitza Stark Gene: rdh5 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.96 RDH5 Belinda Chong reviewed gene: RDH5: Rating: RED; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264; Phenotypes: Fundus albipunctatus 136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.4 RDH5 Zornitza Stark gene: RDH5 was added
gene: RDH5 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RDH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RDH5 were set to Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy