Ehlers Danlos syndrome with a likely monogenic cause
Gene: COL9A1EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 15 panels
5 reviews
Eleanor Williams (Genomics England Curator)
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.
Duncan Baker (Sheffield Genetics)
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.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- 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.
- Tags
- OMIM
- 120210
- Clinvar variants
- Variants in COL9A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: COL9A1.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: col9a1 has been removed from the panel.
Set Phenotypes
Eleanor Williams (Genomics England Curator)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.
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL9A1.
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL9A1 were set to 16909383; 21421862; 20301479
Upload gene information
Louise Daugherty (Genomics England Curator)COL9A1 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134;?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL9A1 were set to 16909383;21421862;20301479
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective Tissue Disorders; ?Epiphyseal dysplasia, multiple, 6, 614135
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for COL9A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective Tissue Disorders
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective tissue disorder
Added New Source
Ellen McDonagh (Genomics England Curator)COL9A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)COL9A1 was created by ellenmcdonagh