SRPX2 Chromosome X
Sushi repeat containing protein X-linked 2
Upload your DNA to see your personal genotypes for variants in SRPX2.
What This Gene Does
This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Sushi domain containing
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000102359
Associated Conditions (7)
Rolandic epilepsy
intellectual disability
and speech dyspraxia
X-linked
SRPX2-related disorder
History of neurodevelopmental disorder
Genetic developmental and epileptic encephalopathy
Key Variants
RS121918363
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS139377205
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS141168255
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS141292909
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS142719253
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS146063801
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, Rolandic epilepsy, intellectual disability
Health Risk
RS148735447
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS149051060
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS200483534
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS200784551
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS368571175
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
RS369663551
Conflicting classifications of pathogenicity
Rolandic epilepsy, intellectual disability, and speech dyspraxia
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918363 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS139377205 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS141168255 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS141292909 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS142719253 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS146063801 | Health Risk | Conflicting classifications of pathogenicity | History of neurodevelopmental disorder, Rolandic epilepsy, intellectual disability |
| RS148735447 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS149051060 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS200483534 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS200784551 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS368571175 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS369663551 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS73636611 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS753573260 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS758448998 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS758845090 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS767072861 | Health Risk | Conflicting classifications of pathogenicity | Rolandic epilepsy, intellectual disability, and speech dyspraxia |
| RS1556013503 | Health Risk | Likely pathogenic | — |
| RS771849296 | Health Risk | Pathogenic | Rolandic epilepsy, intellectual disability, and speech dyspraxia |