Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL9A2.
Tag Q1_23_promote_green was removed from gene: COL9A2.
Tag Q1_23_expert_review was removed from gene: COL9A2.
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Classified gene: COL9A2 as Green List (high evidence)
Retinal disorders v3.28 COL9A2 Achchuthan Shanmugasundram Gene: col9a2 has been classified as Green List (High Evidence).
Retinal disorders v3.27 COL9A2 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.27 COL9A2 Achchuthan Shanmugasundram edited their review of gene: COL9A2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.26 COL9A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL9A2.
Retinal disorders v3.26 COL9A2 Achchuthan Shanmugasundram commented on gene: COL9A2: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Retinal disorders v3.10 COL9A2 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL9A2.
Tag Q1_23_expert_review tag was added to gene: COL9A2.
Retinal disorders v3.10 COL9A2 Achchuthan Shanmugasundram Publications for gene: COL9A2 were set to
Retinal disorders v3.9 COL9A2 Achchuthan Shanmugasundram reviewed gene: COL9A2: Rating: ; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, OMIM:614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.6 COL9A2 Eleanor Williams reviewed gene: COL9A2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler Syndrome, high myopia, retinal detachment,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.227 COL9A2 Arina Puzriakova Phenotypes for gene: COL9A2 were changed from Eye Disorders to Stickler syndrome, type V, OMIM:614284
Retinal disorders v2.226 COL9A2 Arina Puzriakova Mode of inheritance for gene: COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.160 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A2 Gavin Arno reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 COL9A2 Ivone Leong Source NHS GMS was added to COL9A2.