Activity

Filter

Cancel
Date Panel Item Activity
17 actions
Retinal disorders v3.30 COL11A1 Achchuthan Shanmugasundram Classified gene: COL11A1 as Green List (high evidence)
Retinal disorders v3.30 COL11A1 Achchuthan Shanmugasundram Gene: col11a1 has been classified as Green List (High Evidence).
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL11A1.
Tag Q1_23_promote_green was removed from gene: COL11A1.
Tag Q1_23_expert_review was removed from gene: COL11A1.
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram edited their review of gene: COL11A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Retinal disorders v3.29 COL11A1 Achchuthan Shanmugasundram Deleted their comment
Retinal disorders v3.26 COL11A1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: COL11A1.
Retinal disorders v3.26 COL11A1 Achchuthan Shanmugasundram commented on gene: COL11A1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Retinal disorders v3.16 COL11A1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL11A1.
Tag Q1_23_expert_review tag was added to gene: COL11A1.
Retinal disorders v3.16 COL11A1 Achchuthan Shanmugasundram Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Retinal disorders v3.15 COL11A1 Achchuthan Shanmugasundram Publications for gene: COL11A1 were set to
Retinal disorders v3.14 COL11A1 Achchuthan Shanmugasundram Mode of inheritance for gene: COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v3.13 COL11A1 Achchuthan Shanmugasundram reviewed gene: COL11A1: Rating: ; Mode of pathogenicity: None; Publications: 10486316, 17318849; Phenotypes: Marshall syndrome, OMIM:154780, Stickler syndrome, type II, OMIM:604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v3.6 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, Marshall syndrome,, beaded vitreous, early onset hearing loss, retinal detachment; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.223 COL11A1 Arina Puzriakova Phenotypes for gene: COL11A1 were changed from Eye Disorders to Stickler syndrome, type II, OMIM:604841
Retinal disorders v1.160 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A1 Gavin Arno reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 COL11A1 Ivone Leong Source NHS GMS was added to COL11A1.