Deafness_IsolatedAndComplex
Gene: SLC17A8
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
Gene: slc17a8 has been classified as Green List (High Evidence).
Publications for gene: SLC17A8 were set to
Phenotypes for gene: SLC17A8 were changed from to Deafness, autosomal dominant 25, MIM#605583
Mode of inheritance for gene: SLC17A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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