Familial Meniere Disease

Gene: AQP6

Red List (low evidence)

AQP6 (aquaporin 6)
EnsemblGeneIds (GRCh38): ENSG00000086159
EnsemblGeneIds (GRCh37): ENSG00000086159
OMIM: 601383, Gene2Phenotype
AQP6 is in 1 panel

1 review

Eldar Dedic (Independent Clinical Genetics Consultant)

Red List (low evidence)

- No Meniere disease patient with rare AQP6 variant has been found through literature search

- There are no likely pathogenic/pathogenic variants within AQP6 associated with familial Meniere disease according to ClinVar

- IMPC noted that homozygous AQP6 knock-out mouse did not experience significant hearing loss

- This gene is having pLI score of 0.02 (gnomAD v2.1.1) and an HI score of 68.47% (Decipher)

- There are no high frequency potentially loss of function (pLOF) variants (gnomAD v2.1.1)

- There are no high-frequency pLOF copy number variants reported by gnomAD SVs v2.1 or DGV: Gold Standard Variants
Created: 15 Oct 2021, 1:34 p.m. | Last Modified: 15 Oct 2021, 1:34 p.m.
Panel Version: 1.1

Mode of inheritance


  • Literature
Clinvar variants
Variants in AQP6
Panels with this gene

History Filter Activity

27 Mar 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

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

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

AQP6 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1


Eleanor Williams (Genomics England Curator)

AQP6 was created by Eleanor Williams