Familial Meniere Disease
Gene: AQP4

AQP4 (aquaporin 4)
EnsemblGeneIds (GRCh38): ENSG00000171885
EnsemblGeneIds (GRCh37): ENSG00000171885
OMIM: 600308, Gene2Phenotype
AQP4 is in 3 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Several publications report APQ4 expression in supporting cells of the inner ear, including changes in expression levels in Meniere's disease patients, but no reported association between variants in this gene and Meniere's disease. Awaiting further evidence.
Created: 13 Mar 2018, 11:13 a.m.

Comment on publications: PMID:25766597 AQP4 expression in cochlear supporting cells
Created: 13 Mar 2018, 10:39 a.m.

Comment on publications: PMID:26208470 Function of APQ4 in mouse ear
Created: 8 Mar 2018, 5:25 p.m.

Created: 8 Mar 2018, 5:25 p.m.

Panel version: 0.21

Jose Antonio Lopez-Escamez (Center for Genomic GENyO)

I don't know

Several microRNA in the perilymph of patients with MD tag this gene (unpublished findings)
Created: 20 Feb 2018, 5:07 p.m.

Mode of inheritance
Unknown

Phenotypes
Meniere disease

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Feb 2018, 5:07 p.m.

Panel version: 0.17

Details

Sources

Expert Review Red
Literature

OMIM

600308

Clinvar variants

Variants in AQP4

Penetrance

None

Publications

Panels with this gene