SPG11 Chromosome 15
SPG11 vesicle trafficking associated, spatacsin
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What This Gene Does
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Associated Conditions (41)
Autism spectrum disorder
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Spastic paraparesis
Gait disturbance
Generalized hyperreflexia
Difficulty walking
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Melanoma
Hepatocellular carcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Clear cell carcinoma of kidney
Gastric cancer
+21 more conditions
Key Variants
RS2082749902
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1040633382
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5, Charcot-Marie-Tooth disease axonal type 2X
Health Risk
RS1057518874
Conflicting classifications of pathogenicity
Spastic paraparesis, Gait disturbance, Generalized hyperreflexia
Health Risk
RS111347025
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis, Hereditary spastic paraplegia
Health Risk
RS114945876
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 11, Inborn genetic diseases, Hereditary spastic paraplegia 11
Health Risk
RS117683234
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 11, SPG11-related disorder, Hereditary spastic paraplegia 11
Health Risk
RS1256036525
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary spastic paraplegia 11, Inborn genetic diseases
Health Risk
RS1322622893
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary spastic paraplegia 11, Inborn genetic diseases
Health Risk
RS1331589550
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 11, Inborn genetic diseases, Hereditary spastic paraplegia 11
Health Risk
RS1352070054
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
Health Risk
RS1360895808
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
Health Risk
RS1379359957
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2X, Hereditary spastic paraplegia 11, Inborn genetic diseases
Health Risk
All Variants (595)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS79708848 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis, Hereditary spastic paraplegia |
| RS886051176 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 11, Inborn genetic diseases, Hereditary spastic paraplegia 11 |
| RS886051177 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS886051180 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS886051181 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 11, Inborn genetic diseases, Hereditary spastic paraplegia 11 |
| RS983973496 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 11, SPG11-related disorder, Inborn genetic diseases |
| RS990876732 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1060501174 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1085307097 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS111583187 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1191614292 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11, Inborn genetic diseases |
| RS1268481547 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1304713296 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS1435037360 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1555447432 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1555451152 | Health Risk | Likely pathogenic | — |
| RS1555451163 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1555451417 | Health Risk | Likely pathogenic | — |
| RS1555453727 | Health Risk | Likely pathogenic | — |
| RS1566838168 | Health Risk | Likely pathogenic | — |
| RS1567123492 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1595817498 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS1595888828 | Health Risk | Likely pathogenic | — |
| RS2082374687 | Health Risk | Likely pathogenic | See cases, Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2082710048 | Health Risk | Likely pathogenic | Abnormal central motor function, Abnormal central motor function |
| RS2082751022 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2082843264 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2083161760 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2083377690 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2083509815 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2083989142 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2140911612 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2140913822 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2140920796 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2140921013 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2140923130 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2140946934 | Health Risk | Likely pathogenic | Abnormal central motor function, Abnormal central motor function |
| RS2140947703 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2140978326 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2141027980 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2141056788 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2141105806 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2141107413 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2141121333 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2141130246 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2505172270 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2505173672 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS2505177370 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia 11, Hereditary spastic paraplegia |
| RS2505185703 | Health Risk | Likely pathogenic | — |
| RS2505229146 | Health Risk | Likely pathogenic | SPG11-related disorder, SPG11-related disorder |