CRX

cone-rod homeobox
OMIM: 602225, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CRX in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 7, MIM# 613829
  • Cone-rod retinal dystrophy-2 MIM#120970

Red CRX in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory

Green CRX in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cone-rod retinal dystrophy-2, 120970
  • Leber congenital amaurosis 7, 613829

Green CRX in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod retinal dystrophy-2, 120970

Green CRX in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 7, MIM# 613829