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CYP2R1

Synonyms
-
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 enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
6
VUS
349
Likely benign
195
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on CYP2R1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the nervous system
60%
Abnormality of the eye
53.3%
Abnormality of the musculoskeletal system
53.3%
Growth abnormality
40%
Abnormality of limbs
20%
Abnormality of the integument
20%
Abnormality of the cardiovascular system
13.3%
Abnormality of the ear
13.3%
Abnormality of the immune system
13.3%
Abnormality of the breast
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the genitourinary system
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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