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 |
|---|---|---|---|
| RS772598739 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS773037813 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS775491374 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS778125780 | Health Risk | Conflicting classifications of pathogenicity | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS79299301 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS904045520 | Health Risk | Conflicting classifications of pathogenicity | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS1060501105 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Basal cell nevus syndrome 2 |
| RS1554841447 | Health Risk | Likely pathogenic | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1554852789 | Health Risk | Likely pathogenic | — |
| RS1589970228 | Health Risk | Likely pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS1590062006 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1590063305 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Basal cell nevus syndrome 2 |
| RS2063794106 | Health Risk | Likely pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135598858 | Health Risk | Likely pathogenic | — |
| RS2135598885 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135619894 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135621012 | Health Risk | Likely pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135742927 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2135867122 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2135870923 | Health Risk | Likely pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2135870931 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2135959437 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2492780262 | Health Risk | Likely pathogenic | Familial meningioma, Familial meningioma |
| RS2492780272 | Health Risk | Likely pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS2544829669 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544829884 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544845356 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2545087054 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2545095052 | Health Risk | Likely pathogenic | — |
| RS2545100262 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS2545100510 | Health Risk | Likely pathogenic | Basal cell nevus syndrome 2, Basal cell nevus syndrome 2 |
| RS2545101102 | Health Risk | Likely pathogenic | SUFU-related disorder, SUFU-related disorder |
| RS771361493 | Health Risk | Likely pathogenic | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS975490066 | Health Risk | Likely pathogenic | Gorlin syndrome, Gorlin syndrome |
| RS1060501108 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS1060501109 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1477199832 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1554840869 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS1554852272 | Health Risk | Pathogenic | Joubert syndrome 32, Joubert syndrome 32 |
| RS1554852279 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1564654588 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS1564676479 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS1564698683 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Gorlin syndrome |
| RS1564698850 | Health Risk | Pathogenic | Gorlin syndrome, Medulloblastoma, Hereditary cancer-predisposing syndrome |
| RS1589970134 | Health Risk | Pathogenic | Medulloblastoma, Medulloblastoma |
| RS1590061914 | Health Risk | Pathogenic | — |
| RS1590062899 | Health Risk | Pathogenic | Medulloblastoma, Gorlin syndrome, Medulloblastoma |
| RS1590065940 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS1590066162 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Gorlin syndrome, Medulloblastoma |
| RS1590082278 | Health Risk | Pathogenic | — |