Familial Meniere Disease

Gene: AQP5

Red List (low evidence)

- No Meniere disease patient with rare AQP5 variant has been found through literature search

- There are no likely pathogenic/pathogenic (LP/P) variants within AQP5 associated with familial Meniere disease according to ClinVar. The 4 LP/P variants in ClinVar are associated with Palmoplantar keratoderma, Bothnian type

- Li, et al. (2001; PMID: 11406631) showed that transgenic homozygous AQP5 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).

- This gene is having pLI score of 0.05 (gnomAD v2.1.1) and an HI score of 55.37% (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

- According to the GenCC, this gene has been associated with palmoplantar keratoderma, Bothnian type in autosomal dominant (AD) mode of inheritance (MOI). Two submitters associated it with Strong, and one associated it with Moderate classification.

- OMIM associated this gene with Palmoplantar keratoderma, Bothnian type in AD MOI

- Orphanet associated this gene with  Non-epidermolytic palmoplantar keratoderma

Created: 15 Oct 2021, 12:34 p.m. | Last Modified: 15 Oct 2021, 12:34 p.m.

Panel Version: 1.1

Mode of inheritance
Unknown