Monogenic hearing loss
Gene: SLC4A11Comment 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.
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
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
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC4A11 were set to #217400:Corneal endothelial dystrophy and perceptive deafness; #217700:Corneal endothelial dystrophy 2, autosomal recessive
Publications for SLC4A11 were set to PMID: 11302728; 12556388; 15525507; 16767101; 16825429; 17220209; 18024964; 22072594
Mode of inheritance for SLC4A11 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC4A11 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert,Radboud University Medical Center, Nijmegen
SLC4A11 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert,Radboud University Medical Center, Nijmegen
SLC4A11 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert,Radboud University Medical Center, Nijmegen