Stickler syndrome
Gene: COL2A1EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450Created: 3 Mar 2021, 4:23 p.m. | Last Modified: 3 Mar 2021, 4:23 p.m.
Panel Version: 2.9
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Checked imprinted gene list.Created: 1 Feb 2016, 10:06 a.m.
Caroline Wright (Genomics England Curator)
Comment when marking as ready: DDG2P: LOF mechanismCreated: 17 Dec 2015, 11:52 a.m.
allan richards (University of Cambridge)
Splice site mutations and missense substitutions of Glycines within the Gly-Xaa-Yaa repeating amino acid sequence of the collagen are pathogenicCreated: 16 Oct 2015, 10:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Stickler syndrome, type I, OMIM:108300
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Limb disorders
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 to Stickler syndrome, type I, OMIM:108300
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: COL2A1 were set to PMID: 16752401; 20513134
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL2A1 were set to Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Set publications
Ellen McDonagh (Genomics England Curator)Publications for COL2A1 were set to PMID: 16752401; 20513134
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COL2A1 was added to Stickler syndromepanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)COL2A1 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)COL2A1 was added to Stickler syndromepanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)COL2A1 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)COL2A1 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services