Home > Gene Browser > CYP11B1

CYP11B1

Synonyms
CPN1, CYP11B, FHI, P450C11
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 protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.

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
12
Likely pathogenic
3
VUS
5,067
Likely benign
11,179
Benign
13,587

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on CYP11B1 gene are displayed below. The following symptoms were found in patients with a variant in CYP11B1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.7%
Abnormality of the eye
25%
Abnormality of head or neck
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormality of blood and blood forming tissues
8.3%
Abnormality of the ear
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Growth abnormality
8.3%
Neoplasm
8.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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