Familial Meniere Disease

Gene: AQP4

Red List (low evidence)

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.
13 Mar 2018, 11:13 a.m.
Comment on publications: PMID:25766597 AQP4 expression in cochlear supporting cells
13 Mar 2018, 10:39 a.m.
Comment on publications: PMID:26208470 Function of APQ4 in mouse ear
8 Mar 2018, 5:25 p.m.

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Several microRNA in the perilymph of patients with MD tag this gene (unpublished findings)
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

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.

13 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for AQP4 were set to 28787010; 26208470; 25766597; 23352976; 22732097; 20461409; 19096777; 9875338

13 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for AQP4 were set to 28787010; 26208470; 25766597

8 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for AQP4 were set to 28787010; 26208470

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

AQP4 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

AQP4 was created by Eleanor Williams