KCNN3

potassium calcium-activated channel subfamily N member 3
OMIM: 602983, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green KCNN3 in Limb disorders


Version 4.16
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Zimmermann-Laband syndrome 3, OMIM:618658
    • Zimmermann-laband syndrome 3, MONDO:0032854
    Red KCNN3 in Ductal plate malformation


    Version 1.28

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • No OMIM number
    • portal hypertension
    • varices
    • splenomegaly
    Tags
    • watchlist
    Green KCNN3 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ZIMMERMANN-LABAND SYNDROME
    Green KCNN3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Zimmermann-Laband syndrome 3, OMIM:618658