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NDUFAF2

Synonyms
B17.2L, MC1DN10, MMTN, NDUFA12L, mimitin
External resources
Summary
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency.

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
4
Likely pathogenic
0
VUS
754
Likely benign
1,889
Benign
13

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on NDUFAF2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of the ear
50%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of the eye
25%
Abnormality of the integument
25%
Growth abnormality
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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