RTN2 Chromosome 19
Reticulon 2
Upload your DNA to see your personal genotypes for variants in RTN2.
What This Gene Does
This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Reticulons
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000125744
Associated Conditions (12)
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 12
Hereditary spastic paraplegia
RTN2-related disorder
Thyroid cancer
nonmedullary
1
Neuronopathy
distal hereditary motor
autosomal recessive 11
with spasticity
Key Variants
RS1176639498
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS138317158
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1440427338
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145653668
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 12, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1568624823
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12
Health Risk
RS201387324
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 12, Inborn genetic diseases
Health Risk
RS201863499
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS2513743882
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12
Health Risk
RS3038807
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS369158895
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Hereditary spastic paraplegia
Health Risk
RS374003662
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS532500975
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, RTN2-related disorder
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1176639498 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS138317158 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS1440427338 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145653668 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 12, Spastic paraplegia, Inborn genetic diseases |
| RS1568624823 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12 |
| RS201387324 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 12, Inborn genetic diseases |
| RS201863499 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS2513743882 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12 |
| RS3038807 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS369158895 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Hereditary spastic paraplegia |
| RS374003662 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS532500975 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, RTN2-related disorder |
| RS561232438 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS745409162 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS748397131 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 12, Spastic paraplegia, Hereditary spastic paraplegia 12 |
| RS748824542 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS749104931 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS761286207 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS767066842 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, RTN2-related disorder, Inborn genetic diseases |
| RS768449676 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 12, Spastic paraplegia, Hereditary spastic paraplegia 12 |
| RS1421302939 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1568625691 | Health Risk | Likely pathogenic | — |
| RS1599914870 | Health Risk | Likely pathogenic | — |
| RS1968087179 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2513733818 | Health Risk | Likely pathogenic | — |
| RS1968243327 | Health Risk | Pathogenic | Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12 |
| RS2513742001 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 11 |
| RS2513743643 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 11 |
| RS561968273 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 11 |
| RS758370815 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS763387041 | Health Risk | Pathogenic | Hereditary spastic paraplegia 12, Neuronopathy, distal hereditary motor |
| RS1162797495 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 12, Spastic paraplegia |
| RS1968241252 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 12, Spastic paraplegia |
| RS2513740146 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 12, Spastic paraplegia, Hereditary spastic paraplegia 12 |