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Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL9A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A2.
Ehlers Danlos syndrome with a likely monogenic cause v1.56 COL9A2 Eleanor Williams Classified gene: COL9A2 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.56 COL9A2 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.56 COL9A2 Eleanor Williams Gene: col9a2 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.48 COL9A2 Eleanor Williams Phenotypes for gene: COL9A2 were changed from Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders to Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders; Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A2 Duncan Baker edited their review of gene: COL9A2: Changed phenotypes: ?Stickler syndrome, type V614284, Epiphyseal dysplasia, multiple, 2 600204, Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A2 Eleanor Williams reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A2 Eleanor Williams Source NHS GMS was added to COL9A2.
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A2 Duncan Baker reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause COL9A2 Angela Brady reviewed COL9A2
Ehlers Danlos syndrome with a likely monogenic cause COL9A2 Neeti Ghali reviewed COL9A2
Ehlers Danlos syndrome with a likely monogenic cause COL9A2 Louise Daugherty commented on COL9A2