SLITRK2 Chromosome X
SLIT and NTRK like family member 2
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What This Gene Does
This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
SLIT and NTRK like family
Locus Type
gene with protein product
Location
Xq27.3
Ensembl
ENSG00000185985
Associated Conditions (3)
Intellectual developmental disorder
X-linked 111
Intellectual disability
Key Variants
RS1357978246
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked 111, Intellectual disability
Health Risk
RS2124163845
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual developmental disorder, X-linked 111
Health Risk
RS2124152159
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS782072593
Likely pathogenic
Intellectual disability, Intellectual developmental disorder, X-linked 111
Health Risk
RS2073064247
Pathogenic/Likely pathogenic
Intellectual disability, Intellectual developmental disorder, X-linked 111
Health Risk
RS2073068605
Pathogenic/Likely pathogenic
Intellectual developmental disorder, X-linked 111, Intellectual disability
Health Risk
RS2124181878
Pathogenic/Likely pathogenic
Intellectual disability, Intellectual developmental disorder, X-linked 111
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1357978246 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked 111, Intellectual disability |
| RS2124163845 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual developmental disorder, X-linked 111 |
| RS2124152159 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS782072593 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual developmental disorder, X-linked 111 |
| RS2073064247 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual developmental disorder, X-linked 111 |
| RS2073068605 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder, X-linked 111, Intellectual disability |
| RS2124181878 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual developmental disorder, X-linked 111 |