SPRED1 Chromosome 15
Sprouty related EVH1 domain containing 1
Upload your DNA to see your personal genotypes for variants in SPRED1.
What This Gene Does
The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Sprouty related EVH1 domain containing "
Locus Type
gene with protein product
Location
15q14
Ensembl
ENSG00000166068
Associated Conditions (12)
Legius syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
SPRED1-related disorder
Noonan syndrome
Neurofibromatosis
type 1
Neurodevelopmental delay
Inborn genetic diseases
See cases
Incidental Discovery
Male infertility with spermatogenesis disorder
Key Variants
RS114636635
Conflicting classifications of pathogenicity
Legius syndrome, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
Health Risk
RS115440602
Conflicting classifications of pathogenicity
Legius syndrome, Cardiovascular phenotype, Legius syndrome
Health Risk
RS1241478218
Conflicting classifications of pathogenicity
Legius syndrome, Cardiovascular phenotype, Legius syndrome
Health Risk
RS1255579349
Conflicting classifications of pathogenicity
Legius syndrome, Cardiovascular phenotype, Legius syndrome
Health Risk
RS1270752951
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Legius syndrome, Cardiovascular phenotype
Health Risk
RS138553244
Conflicting classifications of pathogenicity
Legius syndrome, Noonan syndrome and Noonan-related syndrome, SPRED1-related disorder
Health Risk
RS1427402192
Conflicting classifications of pathogenicity
Legius syndrome, Cardiovascular phenotype, Legius syndrome
Health Risk
RS142928983
Conflicting classifications of pathogenicity
Legius syndrome, Legius syndrome
Health Risk
RS1442783307
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS146702985
Conflicting classifications of pathogenicity
Legius syndrome, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
Health Risk
RS147204964
Conflicting classifications of pathogenicity
Legius syndrome, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
Health Risk
RS147474792
Conflicting classifications of pathogenicity
Legius syndrome, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
Health Risk
All Variants (178)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2542743630 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS2542743797 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS2542743874 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS2542743989 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS2542744037 | Health Risk | Pathogenic | Cardiovascular phenotype, Legius syndrome, Cardiovascular phenotype |
| RS2542744046 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS2542744343 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS2542744385 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS368660900 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS727504170 | Health Risk | Pathogenic | Noonan syndrome and Noonan-related syndrome, Legius syndrome, Noonan syndrome and Noonan-related syndrome |
| RS750777752 | Health Risk | Pathogenic | Legius syndrome, Noonan syndrome and Noonan-related syndrome, Incidental Discovery |
| RS752775519 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS755557783 | Health Risk | Pathogenic | Legius syndrome, Legius syndrome |
| RS764234046 | Health Risk | Pathogenic | Legius syndrome, Cardiovascular phenotype, Legius syndrome |
| RS1057518683 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Cardiovascular phenotype, Male infertility with spermatogenesis disorder |
| RS1172820756 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS1424526290 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS1555392609 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS1555392759 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS1595746858 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS1595763659 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS1595763662 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS1595763925 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Cardiovascular phenotype, Neurofibromatosis |
| RS1894017295 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |
| RS2141016462 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome and Noonan-related syndrome, Legius syndrome, Noonan syndrome and Noonan-related syndrome |
| RS754706111 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Legius syndrome, Legius syndrome |
| RS864622410 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS878855228 | Health Risk | Pathogenic/Likely pathogenic | Legius syndrome, Legius syndrome |