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HLCS

Synonyms
HCS
External resources
Summary
This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.

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
1,626
Likely pathogenic
3
VUS
19,141
Likely benign
6,114
Benign
4,093

Patient phenotypes

Proportions of phenotypes among 1623 patients carrying pathogenic or likely pathogenic variants on HLCS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.8%
Abnormality of the musculoskeletal system
27.7%
Abnormality of the eye
23.8%
Abnormality of head or neck
21.6%
Abnormality of the cardiovascular system
18.4%
Abnormality of the ear
13.1%
Abnormality of the integument
12.8%
Growth abnormality
12.3%
Abnormality of limbs
10.8%
Abnormality of the genitourinary system
10.1%
Abnormality of the digestive system
8.3%
Abnormality of the immune system
8.1%
Abnormality of blood and blood-forming tissues
6.4%
Abnormality of the endocrine system
5.4%
Abnormality of the respiratory system
4%
Neoplasm
3.3%
Abnormality of prenatal development or birth
2.8%
Constitutional symptom
1.7%
Abnormal cellular phenotype
1.4%
Abnormality of the breast
0.7%
Abnormality of the voice
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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