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HMGCS2

Synonyms
-
External resources
Summary
The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. 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
34
VUS
6,407
Likely benign
1,381
Benign
428

Patient phenotypes

Proportions of phenotypes among 48 patients carrying pathogenic or likely pathogenic variants on HMGCS2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
41.7%
Abnormality of the nervous system
37.5%
Abnormality of head or neck
33.3%
Abnormality of the ear
27.1%
Abnormality of limbs
22.9%
Abnormality of the cardiovascular system
22.9%
Abnormality of the eye
16.7%
Abnormality of the integument
16.7%
Abnormality of the respiratory system
14.6%
Abnormality of the digestive system
12.5%
Growth abnormality
10.4%
Abnormality of the immune system
8.3%
Abnormality of blood and blood-forming tissues
6.3%
Neoplasm
6.3%
Abnormality of prenatal development or birth
2.1%
Abnormality of the breast
2.1%
Abnormality of the genitourinary system
2.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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