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SDHD

Synonyms
CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, QPs3, SDH4, cybS
External resources
Summary
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants.

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
0
Likely pathogenic
3
VUS
4,864
Likely benign
336
Benign
125

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on SDHD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
66.7%
Abnormality of the nervous system
66.7%
Abnormality of the cardiovascular system
33.3%
Abnormality of the ear
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the musculoskeletal system
33.3%
Growth abnormality
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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