CACNA2D4

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CACNA2D4 in Mendeliome


Version 2.0

1 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 1.0

0 reviews 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 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal cone dystrophy 4, 610478