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OGDH

Synonyms
AKGDH, E1k, KGD1, OGDC, OGDH2, OGDHD
External resources
Summary
This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

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
18
Likely pathogenic
0
VUS
16,980
Likely benign
1,398
Benign
497

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on OGDH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
62.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
25%
Abnormality of limbs
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the immune system
12.5%
Abnormality of the respiratory system
12.5%
Growth abnormality
12.5%
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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