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SDHA

Synonyms
CMD1GG, FP, MC2DN1, NDAXOA, PGL5, SDH1, SDH2, SDHF
External resources
Summary
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms 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
14
Likely pathogenic
1
VUS
31,557
Likely benign
11,451
Benign
1,973

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on SDHA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
26.7%
Abnormality of the ear
26.7%
Abnormality of limbs
20%
Abnormality of the integument
20%
Abnormality of the cardiovascular system
13.3%
Abnormality of the eye
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the endocrine system
6.7%
Growth abnormality
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive 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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