Home > Gene Browser > CYP2R1

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

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
19
Likely pathogenic
0
VUS
597
Likely benign
417
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on CYP2R1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
33.3%
Abnormality of the eye
27.8%
Abnormality of the musculoskeletal system
22.2%
Abnormality of the cardiovascular system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of limbs
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the ear
5.6%
Abnormality of the immune system
5.6%
Growth abnormality
5.6%
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 breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes