CDHR1

cadherin related family member 1
OMIM: 609502, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CDHR1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green CDHR1 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Cone-rod dystrophy 15, 613660
  • Retinitis pigmentosa 65, 613660
Red CDHR1 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 15, 613660
  • Eye Disorders