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Hearing loss

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

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

AQP4 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:05 a.m.
AQP4 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:39 p.m.

Publications

Details

Sources
  • Expert
OMIM
600308
Clinvar variants
Variants in AQP4
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AQP4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert