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FDXR

Synonyms
ADR, ADXR, ANOA
External resources
Summary
This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
97
Likely pathogenic
3
VUS
2,680
Likely benign
3,203
Benign
1,101

Patient phenotypes

Proportions of phenotypes among 99 patients carrying pathogenic or likely pathogenic variants on FDXR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.4%
Abnormality of the cardiovascular system
28.3%
Abnormality of the ear
15.2%
Abnormality of the musculoskeletal system
15.2%
Abnormality of head or neck
11.1%
Growth abnormality
11.1%
Abnormality of the eye
8.1%
Abnormality of the genitourinary system
7.1%
Abnormality of limbs
6.1%
Abnormality of prenatal development or birth
6.1%
Abnormality of the immune system
6.1%
Abnormality of blood and blood-forming tissues
4%
Abnormality of the endocrine system
4%
Neoplasm
3%
Abnormality of the digestive system
2%
Abnormality of the integument
2%
Abnormal cellular phenotype
1%
Abnormality of the respiratory system
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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