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FMO4

Synonyms
FMO2
External resources
Summary
Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme 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.

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
102
Likely pathogenic
0
VUS
1,209
Likely benign
1,012
Benign
0

Patient Phenotypes

Proportions of phenotypes among 102 patients carrying pathogenic or likely pathogenic variants on FMO4 gene are displayed below. The following symptoms were found in patients with a variant in FMO4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.2%
Abnormality of the musculoskeletal system
27.5%
Abnormality of head or neck
24.5%
Abnormality of the ear
14.7%
Abnormality of the cardiovascular system
13.7%
Abnormality of the genitourinary system
12.7%
Growth abnormality
12.7%
Abnormality of the eye
11.8%
Abnormality of limbs
9.8%
Abnormality of blood and blood forming tissues
6.9%
Abnormality of metabolism homeostasis
6.9%
Abnormality of the immune system
5.9%
Abnormality of the integument
5.9%
Abnormality of prenatal development or birth
3.9%
Abnormality of the digestive system
2.9%
Abnormality of the endocrine system
2%
Abnormality of the respiratory system
1%
Abnormality of the voice
1%
Neoplasm
1%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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