CNNM4

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CNNM4 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Jalili syndrome 217080
  • amelogenesis imperfecta, cone-rod dystrophy

Green CNNM4 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.209

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Jalili syndrome MIM#217080

    Green CNNM4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Jalili syndrome, 217080 (3)

    Green CNNM4 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Jalili syndrome, MIM#217080
    • cone-rod dystrophy and amelogenesis imperfecta

    Green CNNM4 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Jalili syndrome, 217080 (3)