COCH

cochlin
OMIM: 603196, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green COCH in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

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 Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.37
Signed off v.2.5 on 13 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • #601369:Deafness, autosomal dominant 9
  • Nonsyndromic Hearing Loss, Dominant

Green COCH in Severe Paediatric Disorders


Version 1.6

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness