Deafness_IsolatedAndComplex

Gene: SLITRK6

Green List (high evidence)

Additional non-Amish family reported.

Created: 29 Jan 2020, 6:17 a.m. | Last Modified: 29 Jan 2020, 6:17 a.m.

Panel Version: 0.306

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness and myopia, MIM#221200

Publications

• 29551497

Green List (high evidence)

The SLITRK6 gene has been associated with autosomal recessive deafness and myopia using the ClinGen Clinical Validity Framework as of 1/4/2017. This association was made using case-level data only. At least 3 nonsense variants have been reported in humans. SLITRK6 was first associated with this disease in humans as early as 2013 (Tekin et al.). Association is seen in at least 3 probands in 1 publication (23543054). Variants in this gene segregated with disease in 7 additional family members. This gene-disease association is supported by a mouse model and expression studies (Tekin et al. 2013 and Katayama et al. 2009). In summary, there is strong evidence to support the association between SLITRK6 and autosomal recessive deafness and myopia.

Created: 28 Jan 2020, 11:12 p.m. | Last Modified: 28 Jan 2020, 11:12 p.m.

Panel Version: 0.256

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
deafness and myopia

Publications

• 23543054