Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: SLC4A11

Green List (high evidence)

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.

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

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

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

History Filter Activity

23 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC4A11 were set to #217400:Corneal endothelial dystrophy and perceptive deafness; #217700:Corneal endothelial dystrophy 2, autosomal recessive

23 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC4A11 were set to PMID: 11302728; 12556388; 15525507; 16767101; 16825429; 17220209; 18024964; 22072594

23 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC4A11 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A11 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A11 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC4A11 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Expert,Radboud University Medical Center, Nijmegen