SUFU Chromosome 10
SUFU negative regulator of hedgehog signaling
Upload your DNA to see your personal genotypes for variants in SUFU.
What This Gene Does
The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Associated Conditions (19)
Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Joubert syndrome 32
Basal cell nevus syndrome 2
SUFU-related disorder
Thyroid cancer
nonmedullary
1
Craniopharyngioma
Meningioma
Basal cell nevus syndrome 1
Microform holoprosencephaly
B Lymphoblastic Leukemia/Lymphoma
Not Otherwise Specified
Neurodevelopmental disorder
Congenital fibrosarcoma
Oculomotor apraxia
Key Variants
RS1040654062
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501103
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Gorlin syndrome
Health Risk
RS1060501104
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501117
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504147
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1171604398
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1212706214
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Medulloblastoma
Health Risk
RS1244167364
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1254002019
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma
Health Risk
RS1265012285
Conflicting classifications of pathogenicity
Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1275187815
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma
Health Risk
RS12780580
Conflicting classifications of pathogenicity
Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (198)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1590084324 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2062292476 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2063471372 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2063472158 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2063473101 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2063697672 | Health Risk | Pathogenic | — |
| RS2135597189 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Basal cell nevus syndrome 2 |
| RS2135597558 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135597588 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135597894 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135597925 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135598685 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135598717 | Health Risk | Pathogenic | Gorlin syndrome, Gorlin syndrome |
| RS2135620210 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135743382 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135866639 | Health Risk | Pathogenic | Oculomotor apraxia, Oculomotor apraxia |
| RS2135867131 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135867295 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135870609 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135881899 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135882212 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135882232 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135888594 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135889203 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS2135889249 | Health Risk | Pathogenic | Gorlin syndrome, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS2135930082 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135930329 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS2492789659 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2492790302 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2492790396 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544829771 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2544830938 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2544831018 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2544831569 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2544845660 | Health Risk | Pathogenic | — |
| RS2545081587 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2545095221 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2545095273 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS587776578 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, SUFU-related disorder |
| RS587776579 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Basal cell nevus syndrome 2 |
| RS770989077 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS771084342 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS863224925 | Health Risk | Pathogenic | Medulloblastoma, Medulloblastoma |
| RS869300423 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS907135467 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135954200 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS2492780008 | Health Risk | Pathogenic/Likely pathogenic | Gorlin syndrome, Basal cell nevus syndrome 2, Gorlin syndrome |
| RS2545095292 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |