Description
Familial Meniere Disease inclusion criteria

A diagnosis of Meniere made by either an ENT or an Audiovestibular Medicine (AVM) consultant.

The full clinical triad of symptoms (vertigo, tinnitus and sensorineural hearing loss).

At least 3 affected relatives with confirmed diagnosis of Meniere’s disease (fitting the clinical criteria) of whom two should be first degree relatives.
Unaffected individuals should not be recruited.

Familial Meniere Disease exclusion criteria

Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Familial Meniere Disease prior genetic testing genes

Closing statement
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Maria Bitner-Glindzicz (UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jose Antonio Lopez-Escamez (Center for Genomic GENyO)

    Group: Other
    Workplace: Research lab

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

    Group: GeCIP domain
    Workplace: NHS clinical service

130 genes

14 reviewed, 1 green

List Gene Reviews Mode of inheritance Details
130 genes
Green Green List (high evidence)
COCH
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Deafness, autosomal dominant 9, 601369
  • cochlear-vestibular dysfunction
Tags
  • watchlist
Amber Amber List (moderate evidence)
DPT
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Tags
  • watchlist
Amber Amber List (moderate evidence)
DTNA
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Meniere disease
Tags
  • watchlist
  • multifactorial
Amber Amber List (moderate evidence)
FAM136A
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Other
  • Expert Review Amber
Phenotypes
  • Meniere disease
Tags
  • watchlist
  • multifactorial
Amber Amber List (moderate evidence)
PRKCB
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Other
  • Expert Review Amber
Phenotypes
  • Meniere disease
Tags
  • watchlist
  • multifactorial
Red Red List (low evidence)
ADD1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
ADD2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
ADD3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
AQP1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
AQP2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
AQP3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
AQP4
2 reviews
Not set
Sources
  • Literature
  • Expert Review Red
Red Red List (low evidence)
AQP5
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
AQP6
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
AR
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
AVPR2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CACNA1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Episodic ataxia type 2
  • migraine familial hemiplegic type 1
Red Red List (low evidence)
CASP3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CAV1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CCL2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CCL4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CCL5
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CCND1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CCR5
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CD276
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CD4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CD40
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CD80
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CD86
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CGA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CHGA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CSF2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CTLA4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CXCL1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CXCL10
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
CXCL8
1 review
Not set
Sources
  • Literature
Red Red List (low evidence)
CXCL9
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
DEFB1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
DIAPH1
2 reviews
1 red
Not set
Sources
  • Literature
  • Expert Review Red
Red Red List (low evidence)
ESR1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
ESR2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
FCHO1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
FCHO2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
FLNA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
FOS
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
FOXP3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
GJB3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
GJB6
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
GPX1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
GPX4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
GPX5
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HCFC1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HLA-A
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HLA-B
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HLA-C
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HLA-DPA2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HLA-DQA1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HLA-DRB1
2 reviews
1 red
Not set
Sources
  • Literature
  • Expert Review Red
Red Red List (low evidence)
HLA-DRB5
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
HSPA1A
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
ICAM1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IFNG
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL10
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL18
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL1A
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL1B
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL1R1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL2RA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IL6
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
IRF7
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
KCNA1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
KCNA4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
KCNA5
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
KCNE1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
KCNE3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
KCNQ1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
KCNQ4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
LTF
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MARVELD2
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Sporadic Meniere disease
  • Deafness, autosomal recessive 49 610153
Red Red List (low evidence)
MICA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MIF
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MMP9
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MRPS12
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MTHFR
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MTNR1B
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MTR
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MTRR
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
MYD88
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NAGA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NDUFS2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NFKB1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bilateral Meniere disease
  • autoimmune Meniere disease
Red Red List (low evidence)
NFKBIA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NOS2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NOS3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NOTCH2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NOTCH3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NPR1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NPR2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
NPR3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
PARP1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
PON1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
PON2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
POU4F3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
PTGS2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
PTPN22
2 reviews
Not set
Sources
  • Expert Review Red
  • Literature
Red Red List (low evidence)
REL
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
RELA
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
SEMA3D
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
SIK1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
SLC12A2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
SLC26A4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
SLC8A1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
SOD2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
STAT3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TFB1M
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TLR10
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TLR2
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TLR3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TLR4
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TLR7
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TLR8
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TLR9
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TNF
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TNFAIP3
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TNFRSF1A
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
TNIP1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
VCAM1
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
VHL
0 reviews
Not set
Sources
  • Literature
Red Red List (low evidence)
WFS1
3 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sporadic Meniere disease
Tags
  • watchlist

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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