Monogenic hearing loss
Gene: SLC4A11

SLC4A11 (solute carrier family 4 member 11)
EnsemblGeneIds (GRCh38): ENSG00000088836
EnsemblGeneIds (GRCh37): ENSG00000088836
OMIM: 610206, Gene2Phenotype
SLC4A11 is in 7 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Upgraded from amber to green due to expert review. Mutations were reported within this gene in patients with corneal dystrophy and perceptive deafness in 6 families - PMID: 17220209.
Created: 23 Feb 2016, 12:39 p.m.

Created: 23 Feb 2016, 12:39 p.m.

Panel version: 0.373

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#217400:Corneal endothelial dystrophy and perceptive deafness[Corneal dystrophy; Corneal opacities; Perceptive hearing loss]; #217700:Corneal endothelial dystrophy 2, autosomal recessive[Congenital corneal dystrophy; Corneal clouding]; #613268:Corneal dystrophy, Fuchs endothelial, 4[<omim version=1.0><clinicalSynopsisList>]

Publications

Created: 7 Feb 2016, 8:54 a.m.

Panel version: 0.105

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

causes mainly corneal dystrophy but has also been reported with hearing loss in several families. Possibly corneal dystrophy could be missed in a young child?

Created: 19 Oct 2015, 6:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 19 Oct 2015, 6:03 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Expert
UKGTN

Phenotypes

#217400:Corneal endothelial dystrophy and perceptive deafness
#217700:Corneal endothelial dystrophy 2, autosomal recessive

OMIM

610206

Clinvar variants

Variants in SLC4A11

Penetrance

Complete

Publications

Panels with this gene