Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL9A1
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.Created: 11 Jun 2019, 11:07 a.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL9A1; Suggested initial gene rating: redCreated: 3 Apr 2019, 3:41 p.m.
D/W Dr D Johnson, features not fitting with EDSCreated: 24 Jan 2019, 12:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Comment on publications: Currently only enough evidence in the literature to support Stickler SyndromeCreated: 10 May 2017, 2:41 p.m.
Review from Arianna Tucci : On panel as can present with joint laxityCreated: 10 May 2017, 10:36 a.m.
Tag curated_removed tag was added to gene: COL9A1.
Gene: col9a1 has been removed from the panel.
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.
Source NHS GMS was added to COL9A1.
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for COL9A1 were set to 16909383; 21421862; 20301479
COL9A1 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134;?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders
Publications for COL9A1 were set to 16909383;21421862;20301479
Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective Tissue Disorders; ?Epiphyseal dysplasia, multiple, 6, 614135
Mode of inheritance for COL9A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective Tissue Disorders
Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective tissue disorder
COL9A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list
COL9A1 was created by ellenmcdonagh