RETREG1 Chromosome 5
Reticulophagy regulator 1
Upload your DNA to see your personal genotypes for variants in RETREG1.
What This Gene Does
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Associated Conditions (8)
Neuropathy
hereditary sensory and autonomic
type 2B
Inborn genetic diseases
type 2A
RETREG1-related disorder
Charcot-Marie-Tooth disease
Hereditary sensory and autonomic neuropathy type 2
Key Variants
RS1420598605
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS200156015
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS200871433
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS368710242
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS528532732
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS539315640
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS746380834
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS750040156
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS750740230
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS759050645
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS759739482
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2B
Health Risk
RS767329180
Conflicting classifications of pathogenicity
Inborn genetic diseases, RETREG1-related disorder, Inborn genetic diseases
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1420598605 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS200156015 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS200871433 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS368710242 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS528532732 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS539315640 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS746380834 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS750040156 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS750740230 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS759050645 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS759739482 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS767329180 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, RETREG1-related disorder, Inborn genetic diseases |
| RS886037748 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS886043753 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886060395 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS2126387372 | Health Risk | Likely pathogenic | — |
| RS2477712772 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2477712778 | Health Risk | Likely pathogenic | — |
| RS751185980 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS1237606770 | Health Risk | Pathogenic | — |
| RS137852736 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Neuropathy, hereditary sensory and autonomic |
| RS137852737 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS137852738 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Neuropathy, hereditary sensory and autonomic |
| RS137852739 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS1435783250 | Health Risk | Pathogenic | — |
| RS1738618466 | Health Risk | Pathogenic | — |
| RS1738646700 | Health Risk | Pathogenic | — |
| RS1741988534 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS1743537160 | Health Risk | Pathogenic | — |
| RS200065908 | Health Risk | Pathogenic | — |
| RS2126387706 | Health Risk | Pathogenic | — |
| RS2126388556 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2126633452 | Health Risk | Pathogenic | — |
| RS2477698311 | Health Risk | Pathogenic | — |
| RS2477809311 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS2477809965 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2B |
| RS941182270 | Health Risk | Pathogenic | — |