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SUCLG2

Synonyms
G-SCS, GBETA, GTPSCS
External resources
Summary
This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12.

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
29
Likely pathogenic
14
VUS
5,772
Likely benign
383
Benign
0

Patient Phenotypes

Proportions of phenotypes among 43 patients carrying pathogenic or likely pathogenic variants on SUCLG2 gene are displayed below. The following symptoms were found in patients with a variant in SUCLG2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.5%
Abnormality of the eye
37.2%
Abnormality of the musculoskeletal system
23.3%
Abnormality of head or neck
20.9%
Abnormality of the ear
20.9%
Abnormality of the cardiovascular system
18.6%
Growth abnormality
14%
Abnormality of limbs
4.7%
Abnormality of metabolism homeostasis
4.7%
Abnormality of the genitourinary system
4.7%
Abnormality of the immune system
4.7%
Abnormality of the integument
4.7%
Constitutional symptom
4.7%
Abnormality of blood and blood forming tissues
2.3%
Abnormality of prenatal development or birth
2.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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