Familial Meniere Disease

Gene: AQP2

Red List (low evidence)

AQP2 (aquaporin 2)
EnsemblGeneIds (GRCh38): ENSG00000167580
EnsemblGeneIds (GRCh37): ENSG00000167580
OMIM: 107777, Gene2Phenotype
AQP2 is in 7 panels

1 review

Eldar Dedic (Independent Clinical Genetics Consultant)

Red List (low evidence)

- No Meniere disease patient with rare AQP2 variant has been found through literature search

- There are no likely pathogenic/pathogenic (LP/P) variants within AQP2 associated with familial Meniere disease according to ClinVar. The 12 LP/P variants reported within this gene by ClinVar ate associated in the majority with Nephrogenic diabetes insipidus (NDI)

- This gene is having pLI score of 0 (gnomAD v2.1.1) and an HI score of 42.23% (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

- GeneReviews and Orphanet associated this gene with NDI

- OMIM associated this gene with Diabetes insipidus, nephrogenic, 2 in autosomal recessive/autosomal dominant mode of inheritance
Created: 14 Oct 2021, 6:37 a.m. | Last Modified: 14 Oct 2021, 6:37 a.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)

AQP2 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1


Eleanor Williams (Genomics England Curator)

AQP2 was created by Eleanor Williams