Familial Meniere Disease
Gene: AQP3
AQP3 (aquaporin 3 (Gill blood group))
EnsemblGeneIds (GRCh38): ENSG00000165272
EnsemblGeneIds (GRCh37): ENSG00000165272
OMIM: 600170, Gene2Phenotype
AQP3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000165272
EnsemblGeneIds (GRCh37): ENSG00000165272
OMIM: 600170, Gene2Phenotype
AQP3 is in 1 panel
1 review
Eldar Dedic (Independent Clinical Genetics Consultant)
- 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 GILCreated: 15 Oct 2021, 7:01 a.m. | Last Modified: 15 Oct 2021, 7:01 a.m.
Panel Version: 1.1
Mode of inheritance
Unknown
Details
- Sources
-
- Literature
- OMIM
- 600170
- Clinvar variants
- Variants in AQP3
- 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)AQP3 was added to Familial Meniere Disease panel. Sources: Literature
17 Jan 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)AQP3 was created by Eleanor Williams