KCNQ4

potassium voltage-gated channel subfamily Q member 4
OMIM: 603537, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red KCNQ4 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Green KCNQ4 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Deafness, autosomal dominant 2A, OMIM:600101
    Green KCNQ4 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal dominant 2A, 600101