Congenital nystagmus
Gene: CRXEnsemblGeneIds (GRCh38): ENSG00000105392
EnsemblGeneIds (GRCh37): ENSG00000105392
OMIM: 602225, Gene2Phenotype
CRX is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Both mono-allelic and bi-allelic variants associated with LCA, nystagmus is a feature. Animal model.Created: 25 Oct 2021, 12:07 a.m. | Last Modified: 25 Oct 2021, 12:07 a.m.
Panel Version: 0.26
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 7, MIM# 613829
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Leber congenital amaurosis 7, MIM# 613829
- OMIM
- 602225
- Clinvar variants
- Variants in CRX
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crx has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CRX were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CRX was added gene: CRX was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CRX was set to