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

Deafness_IsolatedAndComplex

Gene: SLC17A8

Green List (high evidence)

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

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

History Filter Activity

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc17a8 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC17A8 were set to

29 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC17A8 were changed from to Deafness, autosomal dominant 25, MIM#605583

29 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC17A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC17A8 was added gene: SLC17A8 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: SLC17A8 was set to Unknown