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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: rated as STRONG.

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: 11 May 2022, 8:23 a.m. | Last Modified: 11 May 2022, 8:23 a.m.
Panel Version: 0.14109

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 25, MIM# 605583

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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

11 May 2022, 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).

11 May 2022, 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

11 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC17A8 were set to

11 May 2022, 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC17A8 was set to Unknown