Familial Meniere Disease
Gene: AQP6
AQP6 (aquaporin 6)
EnsemblGeneIds (GRCh38): ENSG00000086159
EnsemblGeneIds (GRCh37): ENSG00000086159
OMIM: 601383, Gene2Phenotype
AQP6 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000086159
EnsemblGeneIds (GRCh37): ENSG00000086159
OMIM: 601383, Gene2Phenotype
AQP6 is in 1 panel
1 review
Eldar Dedic (Independent Clinical Genetics Consultant)
- 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 VariantsCreated: 15 Oct 2021, 1:34 p.m. | Last Modified: 15 Oct 2021, 1:34 p.m.
Panel Version: 1.1
Mode of inheritance
Unknown
Details
- Sources
-
- Literature
- OMIM
- 601383
- Clinvar variants
- Variants in AQP6
- Penetrance
- None
- Publications
- 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
Created
Eleanor Williams (Genomics England Curator)AQP6 was created by Eleanor Williams