Deafness_IsolatedAndComplex
Gene: SLC17A8

SLC17A8 (solute carrier family 17 member 8)
EnsemblGeneIds (GRCh38): ENSG00000179520
EnsemblGeneIds (GRCh37): ENSG00000179520
OMIM: 607557, Gene2Phenotype
SLC17A8 is in 2 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

The SLC17A8 gene has been associated with autosomal dominant nonsyndromic hearing loss using the ClinGen Clinical Validity Framework as of 10/7/16. This association was made using case-level data. At least 3 variants (a missense, a frameshift and a splice site) have been reported in humans. SLC17A8 was first associated with this disease in humans as early as 2008 (Ruel et al.). Association is seen in at least 3 probands in 3 publications (18674745, 26797701, 28647561). Variants in this gene segregated with disease in 21 additional family members. This gene-disease association is supported by a knock-out mouse model, a mouse rescue, and a zebrafish model. In summary, there is strong evidence to support the association between SCL17A8 and autosomal dominant nonsyndromic hearing loss.
Created: 28 Jan 2020, 11:09 p.m. | Last Modified: 28 Jan 2020, 11:09 p.m.

Panel Version: 0.256

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Non syndrome hearing loss

Publications

Created: 28 Jan 2020, 11:09 p.m.
Last Modified: 28 Jan 2020, 11:09 p.m.
Panel version: 0.256

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

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

Phenotypes

Deafness, autosomal dominant 25, MIM#605583

OMIM

607557

Clinvar variants

Variants in SLC17A8

Penetrance

None

Publications

Panels with this gene