KCNN3

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

5 panels

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


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

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 1.31

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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Zimmermann-Laband syndrome 3, OMIM:618658
    Green KCNN3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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