Glaucoma (developmental)
Gene: CRXEnsemblGeneIds (GRCh38): ENSG00000105392
EnsemblGeneIds (GRCh37): ENSG00000105392
OMIM: 602225, Gene2Phenotype
CRX is in 11 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cone-rod retinal dystrophy-2; Leber congenital amaurosis 7; 120970; 613829
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 602225
- Clinvar variants
- Variants in CRX
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)CRX was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory