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CYP7B1

Synonyms
CBAS3, CP7B, SPG5A
External resources
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder.

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
21
Likely pathogenic
11
VUS
1,545
Likely benign
2,087
Benign
691

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on CYP7B1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
35.5%
Abnormality of the nervous system
32.3%
Abnormality of head or neck
22.6%
Abnormality of the cardiovascular system
22.6%
Growth abnormality
16.1%
Abnormality of the eye
12.9%
Abnormality of limbs
9.7%
Abnormality of the digestive system
9.7%
Abnormality of the ear
9.7%
Abnormality of the genitourinary system
9.7%
Abnormality of the integument
9.7%
Neoplasm
6.5%
Abnormality of blood and blood-forming tissues
3.2%
Abnormality of the endocrine system
3.2%
Abnormality of the immune system
3.2%
Abnormality of the voice
3.2%
Constitutional symptom
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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