Familial Meniere Disease

Gene: AQP2

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
Unknown