Familial Meniere Disease
Gene: COCH
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 frequenciesCreated: 20 Feb 2018, 5:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Several cases of biallelic variants reported in families with hearing loss (see https://panelapp.genomicsengland.co.uk/panels/126/gene/COCH/) but none report Meniere disease combination of phenotype so leaving the mode of inheritance as monoallelic on the Familial Meniere Disease panel.Created: 26 Nov 2020, 2:47 p.m. | Last Modified: 26 Nov 2020, 2:47 p.m.
Panel Version: 1.1
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 reviewsCreated: 14 Feb 2018, 1:01 p.m.
Publications
Mode of pathogenicity
Other
COCH may be a cause of autosomal dominant cochlear-vestibular dysfunction, unsure for true Meniere's diseaseCreated: 28 Jan 2018, 10:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Phenotype is compatible with Meniere, although atypical for true MeniereCreated: 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
External reviews collated. Internal clinical input. Ready for version 1.
This gene has been classified as Green List (High Evidence).
Publications for COCH were set to 28787010; 9806553; 10400989; 14512963; 14704763; 26758463
Mode of pathogenicity for COCH was changed to Other - please provide details in the comments
Mode of inheritance for COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for COCH were set to 28787010; 9806553; 10400989; 14512963; 14704763
Phenotypes for COCH were set to Deafness, autosomal dominant 9, 601369; cochlear-vestibular dysfunction
Literature was added to COCH. Panel: Familial Meniere Disease Publications for gene COCH was set to ['28787010']
UKGTN was added to COCH. Panel: Familial Meniere Disease
Radboud University Medical Center, Nijmegen was added to COCH. Panel: Familial Meniere Disease
Emory Genetics Laboratory was added to COCH. Panel: Familial Meniere Disease
COCH was added to Familial Meniere Disease panel. Sources: Other
COCH was created by Eleanor Williams