KCNV2:Ensemblv90

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green KCNV2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal cone dystrophy 3B, MIM# 610356

Green KCNV2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinal cone dystrophy 3B, 610356 (3)

Green KCNV2 in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 0.58

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinal cone dystrophy 3B MIM#610356

    Green KCNV2 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Retinal cone dystrophy 3B MIM#610356

    Green KCNV2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Retinal cone dystrophy 3B, 610356 (3)

    Green KCNV2 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Retinal cone dystrophy 3B MIM#610356

    Green KCNV2 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Retinal cone dystrophy 3B MIM#610356