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 Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.247
Latest signed off version: v2.5 (13 Feb 2020)

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 1.127

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