SUFU Chromosome 10
SUFU negative regulator of hedgehog signaling
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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 |
|---|---|---|---|
| RS2545100272 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS34406289 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS36049457 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS368020224 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS368178771 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS369741612 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS369910221 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS372636246 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS374946819 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS377274250 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS377614167 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS535845342 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS544734275 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS550262133 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS555976050 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS556707582 | Health Risk | Conflicting classifications of pathogenicity | Familial meningioma, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS557592503 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS558661774 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS564728455 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS575246362 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS587778699 | Health Risk | Conflicting classifications of pathogenicity | Microform holoprosencephaly, Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS745793517 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS746322193 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Familial meningioma |
| RS746448939 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS746555296 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS747125633 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS748099523 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS749913059 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS750436246 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS751728820 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS752387760 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS752846043 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS753862598 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS755390277 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS758672583 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS761003435 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS761240106 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS763598499 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS764838079 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Gorlin syndrome |
| RS765345575 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS765358771 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS766044613 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS766370528 | Health Risk | Conflicting classifications of pathogenicity | B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified, Medulloblastoma |
| RS766508656 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS766666529 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS767543227 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS768170991 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS770678862 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS771305734 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS771380823 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |