GENE REFERENCE / HGNC:2597

CYP1B1

cytochrome P450 family 1 subfamily B member 1

protein-coding gene2p22.2Gene information

What does this gene do?

The CYP1B1 gene provides instructions for producing an enzyme that is a member of the cytochrome P450 family of enzymes. These enzymes are involved in many processes in the body, such as assisting with reactions that break down drugs and produce certain fats (lipids). The CYP1B1 enzyme participates in biochemical reactions in which an oxygen atom is added to other molecules.

The CYP1B1 enzyme is active in many tissues, including structures of the eye. The function of the CYP1B1 enzyme in the development of the eye is unclear, but it may play a role in forming structures at the front of the eye and may also be involved in a process that regulates the secretion of fluid inside the eye.

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-04-04. Source review: 2022-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
CYP1B1-related glaucoma with or without anterior segment dysgenesisMONDO:0800472 · Evaluated 2023-01-19	Autosomal recessive	DefinitiveGlaucoma and Neuro-Ophthalmology Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 643
Submissions for variants in or overlapping this gene: 1,282
Submissions explicitly reporting this gene: 1,239
Alleles reported pathogenic / likely pathogenic: 133
VariationIDs with uncertain significance: 220
VariationIDs with conflicting classifications: 31

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CYP1B1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 133 alleles in CYP1B1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CYP1B1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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