SLITRK6 Chromosome 13
SLIT and NTRK like family member 6
Upload your DNA to see your personal genotypes for variants in SLITRK6.
What This Gene Does
This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
SLIT and NTRK like family
Locus Type
gene with protein product
Location
13q31.1
Ensembl
ENSG00000184564
Associated Conditions (5)
SLITRK6-related disorder
Hearing impairment
Inborn genetic diseases
High myopia-sensorineural deafness syndrome
Global developmental delay
Key Variants
RS1229145139
Conflicting classifications of pathogenicity
Health Risk
RS199516562
Conflicting classifications of pathogenicity
SLITRK6-related disorder, SLITRK6-related disorder
Health Risk
RS200767869
Conflicting classifications of pathogenicity
Hearing impairment, Inborn genetic diseases, Hearing impairment
Health Risk
RS201935443
Conflicting classifications of pathogenicity
SLITRK6-related disorder, SLITRK6-related disorder
Health Risk
RS1300536359
Likely pathogenic
Health Risk
RS1415999220
Likely pathogenic
Health Risk
RS2501106009
Likely pathogenic
SLITRK6-related disorder, SLITRK6-related disorder
Health Risk
RS587777070
Likely pathogenic
High myopia-sensorineural deafness syndrome, High myopia-sensorineural deafness syndrome
Health Risk
RS1874712158
Pathogenic
Health Risk
RS2501107669
Pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS587777071
Pathogenic
High myopia-sensorineural deafness syndrome, High myopia-sensorineural deafness syndrome
Health Risk
RS587777069
Pathogenic/Likely pathogenic
High myopia-sensorineural deafness syndrome, SLITRK6-related disorder, High myopia-sensorineural deafness syndrome
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1229145139 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199516562 | Health Risk | Conflicting classifications of pathogenicity | SLITRK6-related disorder, SLITRK6-related disorder |
| RS200767869 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Inborn genetic diseases, Hearing impairment |
| RS201935443 | Health Risk | Conflicting classifications of pathogenicity | SLITRK6-related disorder, SLITRK6-related disorder |
| RS1300536359 | Health Risk | Likely pathogenic | — |
| RS1415999220 | Health Risk | Likely pathogenic | — |
| RS2501106009 | Health Risk | Likely pathogenic | SLITRK6-related disorder, SLITRK6-related disorder |
| RS587777070 | Health Risk | Likely pathogenic | High myopia-sensorineural deafness syndrome, High myopia-sensorineural deafness syndrome |
| RS1874712158 | Health Risk | Pathogenic | — |
| RS2501107669 | Health Risk | Pathogenic | Global developmental delay, Global developmental delay |
| RS587777071 | Health Risk | Pathogenic | High myopia-sensorineural deafness syndrome, High myopia-sensorineural deafness syndrome |
| RS587777069 | Health Risk | Pathogenic/Likely pathogenic | High myopia-sensorineural deafness syndrome, SLITRK6-related disorder, High myopia-sensorineural deafness syndrome |