CNNM4

cyclin and CBS domain divalent metal cation transport mediator 4
OMIM: 607805, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red CNNM4 in Glaucoma (developmental)

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

review Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green CNNM4 in Amelogenesis imperfecta


Level 2: Musculoskeletal
Version 4.30
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Jalili syndrome, 217080 (includes amelogenesis imperfecta)
  • cone-rod dystrophy and amelogenesis imperfecta
Green CNNM4 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
  • Jalili syndrome
Amber CNNM4 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
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Jalili syndrome, 217080
  • Eye Disorders