COCH

cochlin
OMIM: 603196, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green COCH in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Deafness, autosomal dominant 9, 601369
  • cochlear-vestibular dysfunction
Tags
  • watchlist
Green COCH in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Deafness, autosomal recessive 110 OMIM:618094
    • Deafness, autosomal dominant 9 OMIM:601369
    • deafness, autosomal recessive 110 MONDO:0054860
    • autosomal dominant nonsyndromic deafness 9 MONDO:0011058