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 1.45

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Jalili syndrome, 217080
  • Eye Disorders