Familial Meniere Disease

Gene: AQP3

Red List (low evidence)

AQP3 (aquaporin 3 (Gill blood group))
EnsemblGeneIds (GRCh38): ENSG00000165272
EnsemblGeneIds (GRCh37): ENSG00000165272
OMIM: 600170, Gene2Phenotype
AQP3 is in 1 panel

1 review

Eldar Dedic (Independent Clinical Genetics Consultant)

Red List (low evidence)

- There are no likely pathogenic/pathogenic (LP/P) variants within AQP3 associated with familial Meniere disease according to ClinVar

- Li, et al. (2001; PMID: 11406631) showed that transgenic homozygous AQP3 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).

- IMPC noted that homozygous AQP3 knock-out mouse did not experience significant hearing loss

- This gene is having pLI score of 0.13 (gnomAD v2.1.1) and an HI score of 15.95% (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

- DGV: Gold Standard Variants reports one deletion (gssvL130368) found at a frequency of 0.13% (2/1501 samples)

- OMIM associated this gene with Blood group GIL
Created: 15 Oct 2021, 7:01 a.m. | Last Modified: 15 Oct 2021, 7:01 a.m.
Panel Version: 1.1

Mode of inheritance


  • Literature
Clinvar variants
Variants in AQP3
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)

AQP3 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1


Eleanor Williams (Genomics England Curator)

AQP3 was created by Eleanor Williams