Familial Meniere Disease

Gene: COCH

Green List (high evidence)

COCH (cochlin)
EnsemblGeneIds (GRCh38): ENSG00000100473
EnsemblGeneIds (GRCh37): ENSG00000100473
OMIM: 603196, Gene2Phenotype
COCH is in 3 panels

4 reviews

Jose Antonio Lopez-Escamez (Center for Genomic GENyO)

Green List (high evidence)

Variable vestibular phenotype in 2 Korean families from progressive to episodic vertigo.
This gene must be included in the panel, although it is usually associated with high frequency hearing loss and not low-frequency, it could involve all frequencies
Created: 20 Feb 2018, 5:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

  • DOI 10.1007/s00405-015-3885-1

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Rated green in 3 expert reviews and confirmed green with Genomics England Clinical Team.
Created: 8 Mar 2018, 4:40 p.m.
Comment on mode of pathogenicity: Only two missense variants have been reported to date (PubMed: 10400989 p.P51S, PubMed: 26758463 p.C162Y)
Created: 15 Feb 2018, 10:51 a.m.
Added Tag of WatchList on recommedation of Genomics England Clinical Team. Check for any conflicting evidence in the future.
Created: 15 Feb 2018, 10:41 a.m.
Only two missense variants have been reported to date (PubMed: 10400989 p.P51S, PubMed: 26758463 p.C162Y)
Created: 15 Feb 2018, 10:38 a.m.
UKGTN, Radboud and Emory have COCH on hear loss panels but not Meniere's specific panels.

Fransen et al 1999 (PubMed: 10400989) report a large Belgian family with COCH variant p.P51S with Meniere's symptoms in >3 family members and two small Dutch families with the same variant and similar symptoms.

Kim et al 2016 (PubMed: 26758463) report a Korean family with a COCH p.C162Y variant and Meniere's symptoms. 3/5 family members meet the criteria for definite MD (Lopez-Escamez et al, 2015, PubMed: 287702820).

Usami et al 2003 (PubMed: 14512963) found no COCH variants in 20 patients with sporadic Meniere's disease.

Sanchez et al 2014 (PubMed: 14704763) found no COCH variants in exons 4 and 5 in 30 individuals with definite sporadic Meniere's disease.

Usami et al point out that there are clinical differences between DFNA9 (which is associated with COCH variants) and Meniere's disease. In Meniere's the hearing loss that accompanies vertigo is usually unilateral and fluctuating, affecting low frequencies at an early stage, but DFNA9 is normally bilateral and progressive hearing loss, starting in the high frequencies and gradually affecting all frequencies.
Created: 14 Feb 2018, 1:29 p.m.
Comment on mode of inheritance: Updated MOI to NOT imprinted as per reviews
Created: 14 Feb 2018, 1:01 p.m.

Publications

Mode of pathogenicity
Other

Georgios Korres (Honorary Fellow in Neuro-Otology, Royal National Throat Nose and Ear Hospital, University College London Hospitals NHS Trust)

Green List (high evidence)

COCH may be a cause of autosomal dominant cochlear-vestibular dysfunction, unsure for true Meniere's disease
Created: 28 Jan 2018, 10:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Phenotype is compatible with Meniere, although atypical for true Meniere
Created: 24 Jan 2018, 9:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
603196
Clinvar variants
Variants in COCH
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

27 Mar 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

External reviews collated. Internal clinical input. Ready for version 1.

8 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Mar 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for COCH were set to 28787010; 9806553; 10400989; 14512963; 14704763; 26758463

15 Feb 2018, Gel status: 3

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for COCH was changed to Other - please provide details in the comments

14 Feb 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COCH were set to 28787010; 9806553; 10400989; 14512963; 14704763

31 Jan 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COCH were set to Deafness, autosomal dominant 9, 601369; cochlear-vestibular dysfunction

17 Jan 2018, Gel status: 3

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Literature was added to COCH. Panel: Familial Meniere Disease Publications for gene COCH was set to ['28787010']

17 Jan 2018, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

UKGTN was added to COCH. Panel: Familial Meniere Disease

17 Jan 2018, Gel status: 2

Added New Source

Eleanor Williams (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to COCH. Panel: Familial Meniere Disease

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Emory Genetics Laboratory was added to COCH. Panel: Familial Meniere Disease

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

COCH was added to Familial Meniere Disease panel. Sources: Other

17 Jan 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

COCH was created by Eleanor Williams