Genomics England
GMS Panels
Panels
Genes and Entities

CRX

cone-rod homeobox
OMIM: 602225
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cone-rod retinal dystrophy -2, Leber congenital amaurosis 7, Leber Congenital Amaurosis, Cone-rod retinal dystrophy-2, 120970, Leber congenital amaurosis 7, 613829, CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7, Eye Disorders, Retinitis Pigmentosa, Dominant, Retinitis pigmentosa