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FMO5

Synonyms
hBVMO1
External resources
Summary
Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants.

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
52
Likely pathogenic
0
VUS
3,850
Likely benign
257
Benign
0

Patient Phenotypes

Proportions of phenotypes among 47 patients carrying pathogenic or likely pathogenic variants on FMO5 gene are displayed below. The following symptoms were found in patients with a variant in FMO5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.8%
Abnormality of the eye
44.7%
Abnormality of the musculoskeletal system
38.3%
Abnormality of head or neck
31.9%
Abnormality of the digestive system
14.9%
Growth abnormality
14.9%
Abnormality of limbs
10.6%
Abnormality of metabolism homeostasis
10.6%
Abnormality of the cardiovascular system
10.6%
Abnormality of the ear
10.6%
Neoplasm
10.6%
Abnormality of the genitourinary system
8.5%
Abnormality of the integument
8.5%
Abnormality of blood and blood forming tissues
6.4%
Abnormality of the endocrine system
6.4%
Abnormality of the respiratory system
6.4%
Abnormality of the immune system
4.3%
Abnormal cellular phenotype
2.1%
Abnormality of prenatal development or birth
2.1%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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