Deafness_IsolatedAndComplex
Gene: SLC26A4

SLC26A4 (solute carrier family 26 member 4)
EnsemblGeneIds (GRCh38): ENSG00000091137
EnsemblGeneIds (GRCh37): ENSG00000091137
OMIM: 605646, Gene2Phenotype
SLC26A4 is in 8 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established disease gene for deafness.
Created: 24 Dec 2019, 12:41 a.m. | Last Modified: 24 Dec 2019, 12:41 a.m.

Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791; Pendred syndrome, MIM#274600

Publications

Created: 24 Dec 2019, 12:41 a.m.
Last Modified: 24 Dec 2019, 12:41 a.m.
Panel version: 0.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791
Pendred syndrome, MIM#274600

OMIM

605646

Clinvar variants

Variants in SLC26A4

Penetrance

None

Publications

Panels with this gene