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NDUFS7

Synonyms
CI-20, CI-20KD, MC1DN3, MY017, PSST
External resources
Summary
This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions.

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
16
Likely pathogenic
3
VUS
5,985
Likely benign
3,852
Benign
1,460

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on NDUFS7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of the musculoskeletal system
38.5%
Abnormality of head or neck
30.8%
Abnormality of the eye
30.8%
Growth abnormality
30.8%
Abnormality of blood and blood-forming tissues
15.4%
Abnormality of the ear
15.4%
Abnormality of limbs
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the integument
7.7%
Abnormal cellular phenotype
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 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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