Cone-rod Dystrophy

Gene: CRX

Green List (high evidence)

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

0 reviews

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
OMIM
602225
Clinvar variants
Variants in CRX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CRX was added gene: CRX was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRX were set to 30679166 Phenotypes for gene: CRX were set to Cone-rod retinal dystrophy-2, 120970