SPAST
HGNC:11233 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
1Linked variants
5Associated phenotypes
Associated phenotypes
Co-mentioned in SPAST publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
| rheumatoid arthritis | — | 1 | 1 |
| congenital cataract | — | 1 | 1 |
| inborn error of metabolism | HP:0001939 | 1 | 1 |
Linked variants
Variants normalized to SPAST| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.683-2A>C | c.683-2A>C | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 100 | 1 |
| Not specified | — | 34 | 1 |
Supporting publications
4 records- 2025Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.Movement disorders clinical practicePubMed ↗
- 2020Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.The American journal of case reportsPubMed ↗
- 2020Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.Frontiers in geneticsPubMed ↗
- 2019Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPubMed ↗