RTN4IP1 Chromosome 6
Reticulon 4 interacting protein 1
Upload your DNA to see your personal genotypes for variants in RTN4IP1.
What This Gene Does
This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000130347
Associated Conditions (7)
Optic atrophy 10 with or without ataxia
intellectual disability
and seizures
Inborn genetic diseases
Retinal dystrophy
Optic atrophy
RTN4IP1-related disorder
Key Variants
RS138612238
Conflicting classifications of pathogenicity
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Health Risk
RS143924605
Conflicting classifications of pathogenicity
Health Risk
RS1775080757
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372866009
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749329916
Conflicting classifications of pathogenicity
Health Risk
RS764393326
Conflicting classifications of pathogenicity
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Health Risk
RS1025800148
Likely pathogenic
Health Risk
RS1360314039
Likely pathogenic
Health Risk
RS1582392486
Likely pathogenic
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Health Risk
RS1776515103
Likely pathogenic
Health Risk
RS2114628933
Likely pathogenic
Health Risk
RS2114680188
Likely pathogenic
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138612238 | Health Risk | Conflicting classifications of pathogenicity | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS143924605 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1775080757 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372866009 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749329916 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764393326 | Health Risk | Conflicting classifications of pathogenicity | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS1025800148 | Health Risk | Likely pathogenic | — |
| RS1360314039 | Health Risk | Likely pathogenic | — |
| RS1582392486 | Health Risk | Likely pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS1776515103 | Health Risk | Likely pathogenic | — |
| RS2114628933 | Health Risk | Likely pathogenic | — |
| RS2114680188 | Health Risk | Likely pathogenic | — |
| RS1304915034 | Health Risk | Pathogenic | — |
| RS145695118 | Health Risk | Pathogenic | Retinal dystrophy, Optic atrophy, Optic atrophy 10 with or without ataxia |
| RS1562156198 | Health Risk | Pathogenic | — |
| RS1776423674 | Health Risk | Pathogenic | — |
| RS1776734650 | Health Risk | Pathogenic | — |
| RS200457692 | Health Risk | Pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS2114677062 | Health Risk | Pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS2114681987 | Health Risk | Pathogenic | — |
| RS2114691078 | Health Risk | Pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS2482300438 | Health Risk | Pathogenic | — |
| RS2482312921 | Health Risk | Pathogenic | — |
| RS2482312971 | Health Risk | Pathogenic | — |
| RS2482333071 | Health Risk | Pathogenic | — |
| RS2482333343 | Health Risk | Pathogenic | — |
| RS372054380 | Health Risk | Pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS536455406 | Health Risk | Pathogenic | — |
| RS746206163 | Health Risk | Pathogenic | — |
| RS751989550 | Health Risk | Pathogenic | — |
| RS755175825 | Health Risk | Pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS771414313 | Health Risk | Pathogenic | — |
| RS772984484 | Health Risk | Pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |
| RS780798399 | Health Risk | Pathogenic | — |
| RS756747776 | Health Risk | Pathogenic/Likely pathogenic | RTN4IP1-related disorder, RTN4IP1-related disorder |
| RS763048901 | Health Risk | Pathogenic/Likely pathogenic | Optic atrophy 10 with or without ataxia, intellectual disability, and seizures |