Structural eye disease
Gene: COL9A1EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 15 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV; 614134
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, 614134
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Stickler syndrome, type IV, OMIM:614134
- OMIM
- 120210
- Clinvar variants
- Variants in COL9A1
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Clefting
- Stickler syndrome
- Osteogenesis imperfecta
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV, 614134; Eye Disorders to Stickler syndrome, type IV, OMIM:614134
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to COL9A1. Mode of inheritance for gene COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Stickler syndrome, type IV, 614134 for gene: COL9A1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COL9A1 was added gene: COL9A1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: COL9A1 was set to Phenotypes for gene: COL9A1 were set to Eye Disorders