Familial Meniere Disease

Gene: AQP5

Red List (low evidence)

AQP5 (aquaporin 5)
EnsemblGeneIds (GRCh38): ENSG00000161798
EnsemblGeneIds (GRCh37): ENSG00000161798
OMIM: 600442, Gene2Phenotype
AQP5 is in 4 panels

1 review

Eldar Dedic (Independent Clinical Genetics Consultant)

Red List (low evidence)

- No Meniere disease patient with rare AQP5 variant has been found through literature search

- There are no likely pathogenic/pathogenic (LP/P) variants within AQP5 associated with familial Meniere disease according to ClinVar. The 4 LP/P variants in ClinVar are associated with Palmoplantar keratoderma, Bothnian type

- Li, et al. (2001; PMID: 11406631) showed that transgenic homozygous AQP5 null mouse (4-5 weeks of age) did not have significantly different auditory brain stem response threshold in comparison to the wild-type (Figure 3).

- This gene is having pLI score of 0.05 (gnomAD v2.1.1) and an HI score of 55.37% (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

- According to the GenCC, this gene has been associated with palmoplantar keratoderma, Bothnian type in autosomal dominant (AD) mode of inheritance (MOI). Two submitters associated it with Strong, and one associated it with Moderate classification.

- OMIM associated this gene with Palmoplantar keratoderma, Bothnian type in AD MOI

- Orphanet associated this gene with  Non-epidermolytic palmoplantar keratoderma
Created: 15 Oct 2021, 12:34 p.m. | Last Modified: 15 Oct 2021, 12:34 p.m.
Panel Version: 1.1

Mode of inheritance

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)

AQP5 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1


Eleanor Williams (Genomics England Curator)

AQP5 was created by Eleanor Williams