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SUFU

Synonyms
JBTS32, PRO1280, SUFUH, SUFUXL
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
206
Likely pathogenic
0
VUS
12,872
Likely benign
213
Benign
929

Patient phenotypes

Proportions of phenotypes among 81 patients carrying pathogenic or likely pathogenic variants on SUFU gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.5%
Abnormality of the eye
23.5%
Abnormality of head or neck
19.8%
Abnormality of the cardiovascular system
19.8%
Abnormality of the musculoskeletal system
18.5%
Abnormality of the ear
17.3%
Abnormality of the genitourinary system
13.6%
Abnormality of the integument
11.1%
Abnormality of the endocrine system
7.4%
Abnormality of limbs
4.9%
Abnormality of the immune system
4.9%
Growth abnormality
4.9%
Neoplasm
4.9%
Abnormality of blood and blood-forming tissues
2.5%
Abnormal cellular phenotype
1.2%
Abnormality of the digestive system
1.2%
Abnormality of the respiratory system
1.2%
Constitutional symptom
1.2%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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