KCNJ13

potassium voltage-gated channel subfamily J member 13
OMIM: 603208, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KCNJ13 in Mendeliome


Version 1.3512

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 16 MIM#614186
  • Snowflake vitreoretinal degeneration, MIM# 193230

Green KCNJ13 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.182

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 16 MIM#614186

    Amber KCNJ13 in Vitreoretinopathy


    Level 2: Ophthalmological disorders
    Version 1.9

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Snowflake vitreoretinal degeneration, MIM# 193230

    Green KCNJ13 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leber congenital amaurosis 16 MIM#614186