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BCO2

Synonyms
B-DIOX-II, BCDO2
External resources
Summary
This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found 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
34
Likely pathogenic
11
VUS
4,177
Likely benign
1,100
Benign
0

Patient Phenotypes

Proportions of phenotypes among 45 patients carrying pathogenic or likely pathogenic variants on BCO2 gene are displayed below. The following symptoms were found in patients with a variant in BCO2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.4%
Abnormality of the nervous system
28.9%
Abnormality of the musculoskeletal system
15.6%
Abnormality of limbs
13.3%
Abnormality of the integument
13.3%
Abnormality of head or neck
8.9%
Abnormality of the immune system
8.9%
Growth abnormality
8.9%
Abnormality of the cardiovascular system
6.7%
Abnormality of the ear
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of blood and blood forming tissues
4.4%
Abnormality of metabolism homeostasis
4.4%
Abnormality of the digestive system
4.4%
Abnormality of the respiratory system
2.2%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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