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Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL9A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A1.
Ehlers Danlos syndrome with a likely monogenic cause v1.55 COL9A1 Eleanor Williams Classified gene: COL9A1 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.55 COL9A1 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 v1.55 COL9A1 Eleanor Williams Gene: col9a1 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.47 COL9A1 Eleanor Williams Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders to Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders; ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A1 Duncan Baker edited their review of gene: COL9A1: Changed phenotypes: Stickler syndrome, type IV 614134, ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A1 Eleanor Williams reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A1 Eleanor Williams Source NHS GMS was added to COL9A1.
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A1 Duncan Baker reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause COL9A1 Angela Brady reviewed COL9A1
Ehlers Danlos syndrome with a likely monogenic cause COL9A1 Neeti Ghali reviewed COL9A1
Ehlers Danlos syndrome with a likely monogenic cause COL9A1 Louise Daugherty commented on COL9A1