Retinal disorders
Gene: COL11A2EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 15 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
deafnessCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Otospondylomegaepiphyseal dysplasia (OSMED) (BIALLELIC, autosomal or pseudoautosomal); deafness autosomal recessive type 53 (DFNB53) (BIALLELIC, autosomal or pseudoautosomal); Stickler syndrome type 3 (STL3) (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Weissenbacher-Zweymueller syndrome (WZS) (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); deafness autosomal dominant type 13 (DFNA13)( MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
Mode of pathogenicity
Dominant negative/All missense
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 120290
- Clinvar variants
- Variants in COL11A2
- Penetrance
- Complete
- 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 New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to COL11A2.
Created
Ellen McDonagh (Genomics England Curator)COL11A2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)COL11A2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red