Congenital nystagmus

Gene: CRX

Green List (high evidence)

CRX (cone-rod homeobox)
EnsemblGeneIds (GRCh38): ENSG00000105392
EnsemblGeneIds (GRCh37): ENSG00000105392
OMIM: 602225, Gene2Phenotype
CRX is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crx has been classified as Green List (High Evidence).

25 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRX were set to

25 Oct 2021, Gel status: 3

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

6 Oct 2021, Gel status: 3

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