Retinitis pigmentosa_Autosomal Dominant

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by Retina ClinGen GCEP on 06/12/2024 - https://search.clinicalgenome.org/CCID:008523
Created: 19 May 2025, 4:24 a.m. | Last Modified: 19 May 2025, 4:24 a.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cone-rod dystrophy 2 MONDO:0007362

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod retinal dystrophy-2, 120970
  • Leber congenital amaurosis 7, 613829
OMIM
602225
Clinvar variants
Variants in CRX
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CRX was added gene: CRX was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829