Familial Meniere Disease

Gene: AQP1

Red List (low evidence)

AQP1 (aquaporin 1 (Colton blood group))
EnsemblGeneIds (GRCh38): ENSG00000240583
EnsemblGeneIds (GRCh37): ENSG00000240583
OMIM: 107776, Gene2Phenotype
AQP1 is in 4 panels

1 review

Eldar Dedic (Independent Clinical Genetics Consultant)

Red List (low evidence)

- No Meniere disease patient with rare AQP1 variant has been found through literature search

- Li, et al. (2001; PMID: 11406631) showed that transgenic homozygous AQP1 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).

- IMPC noted that homozygous AQP1 knock-out mouse did not experience significant hearing loss

- There are no likely pathogenic/pathogenic (LP/P) variants within AQP1 associated with familial Meniere disease according to ClinVar. The only LP/P variant reported within this gene by ClinVar is associated with Colton-null phenotype

- This gene is having pLI score of 0.09 (gnomAD v2.1.1) and an HI score of 26.95% (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, one submitter associated this gene with pulmonary arterial hypertension in the autosomal dominant mode of inheritance with Limited classification

- OMIM associated this gene with Aquaporin-1 deficiency, and with the Blood group, Colton
Created: 13 Oct 2021, 5:42 a.m. | Last Modified: 13 Oct 2021, 5:42 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)

AQP1 was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1


Eleanor Williams (Genomics England Curator)

AQP1 was created by Eleanor Williams