Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Structural eye disease v1.85 COL9A2 Arina Puzriakova Phenotypes for gene: COL9A2 were changed from STICKLER SYNDROME, TYPE V, 614284; Eye Disorders to Stickler syndrome, type V, OMIM:614284
Structural eye disease v0.76 COL9A2 Nicola Ragge reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: STICKLER SYNDROME, TYPE V, 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.38 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: STICKLER SYNDROME, TYPE V, 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.15 COL9A2 Ivone Leong Source NHS GMS was added to COL9A2.
Mode of inheritance for gene COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes STICKLER SYNDROME, TYPE V, 614284 for gene: COL9A2
Structural eye disease v0.2 COL9A2 Ellen McDonagh gene: COL9A2 was added
gene: COL9A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL9A2 was set to
Phenotypes for gene: COL9A2 were set to Eye Disorders