KCNV2

potassium voltage-gated channel modifier subfamily V member 2
OMIM: 607604, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red KCNV2 in Glaucoma (developmental)

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

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green KCNV2 in Retinal disorders


Level 2: Ophthalmology
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinal Cone Dystrophy
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Red KCNV2 in Structural eye disease


Level 2: Ophthalmology
Version 4.40
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinal cone dystrophy 3B, 610356
  • Eye Disorders