Structural eye disease
Gene: CRX

CRX (cone-rod homeobox)
EnsemblGeneIds (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)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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 disease
Created: 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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Leber congenital amaurosis 7, 613829
Cone-rod retinal dystrophy-2, 120970
Eye Disorders

OMIM

602225

Clinvar variants

Variants in CRX

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CRX. Mode of inheritance for gene CRX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Leber congenital amaurosis 7, 613829; Cone-rod retinal dystrophy-2, 120970 for gene: CRX

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CRX was added gene: CRX was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CRX was set to Phenotypes for gene: CRX were set to Eye Disorders

Structural eye disease Gene: CRX