TNR Chromosome 1
Tenascin R
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What This Gene Does
This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Tenascins
Locus Type
gene with protein product
Location
1q25.1
Ensembl
ENSG00000116147
Associated Conditions (7)
Parkinson disease
Inborn genetic diseases
Neurodevelopmental disorder
nonprogressive
with spasticity and transient opisthotonus
Gastric cancer
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus
Key Variants
RS140481433
Conflicting classifications of pathogenicity
Parkinson disease, Inborn genetic diseases, Parkinson disease
Health Risk
RS147204644
Conflicting classifications of pathogenicity
Parkinson disease, Inborn genetic diseases, Parkinson disease
Health Risk
RS562502844
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder, nonprogressive
Health Risk
RS61731112
Conflicting classifications of pathogenicity
Parkinson disease, Parkinson disease
Health Risk
RS1245352495
Likely pathogenic
Gastric cancer, Gastric cancer
Health Risk
RS750577544
Likely pathogenic
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive
Health Risk
RS892080402
Likely pathogenic
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive
Health Risk
RS1287757170
Pathogenic
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive
Health Risk
RS1389178206
Pathogenic
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive
Health Risk
RS1571308125
Pathogenic
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive
Health Risk
RS1571339601
Pathogenic
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive
Health Risk
RS1571360953
Pathogenic
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140481433 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease, Inborn genetic diseases, Parkinson disease |
| RS147204644 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease, Inborn genetic diseases, Parkinson disease |
| RS562502844 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder, nonprogressive |
| RS61731112 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease, Parkinson disease |
| RS1245352495 | Health Risk | Likely pathogenic | Gastric cancer, Gastric cancer |
| RS750577544 | Health Risk | Likely pathogenic | Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive |
| RS892080402 | Health Risk | Likely pathogenic | Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive |
| RS1287757170 | Health Risk | Pathogenic | Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive |
| RS1389178206 | Health Risk | Pathogenic | Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive |
| RS1571308125 | Health Risk | Pathogenic | Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive |
| RS1571339601 | Health Risk | Pathogenic | Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive |
| RS1571360953 | Health Risk | Pathogenic | Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder, nonprogressive |
| RS199853947 | Health Risk | Pathogenic | Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus |
| RS2102011470 | Health Risk | Pathogenic | Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus |
| RS2102034857 | Health Risk | Pathogenic | Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus |