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CES1

Synonyms
ACAT, CE-1, CEH, CES2, HMSE, HMSE1, PCE-1, REH, SES1, TGH, hCE-1
External resources
Summary
This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three 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
25
Likely pathogenic
1
VUS
55,846
Likely benign
153,104
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on CES1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Abnormality of the musculoskeletal system
42.3%
Abnormality of head or neck
30.8%
Abnormality of the cardiovascular system
19.2%
Abnormality of the ear
19.2%
Abnormality of the eye
15.4%
Growth abnormality
15.4%
Abnormality of limbs
11.5%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of prenatal development or birth
3.8%
Abnormality of the breast
3.8%
Abnormality of the integument
3.8%
Abnormality of the respiratory system
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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