CACNA2D4

calcium voltage-gated channel auxiliary subunit alpha2delta 4
OMIM: 608171, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CACNA2D4 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal cone dystrophy 4 MIM#610478

Green CACNA2D4 in Congenital Stationary Night Blindness


Level 2: Ophthalmological disorders
Version 0.23

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinal cone dystrophy 4, 610478
    • Congenital Stationary Night Blindness

    Green CACNA2D4 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinal cone dystrophy 4, 610478