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ACADL

Synonyms
ACAD4, LCAD
External resources
Summary
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia.

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
31
Likely pathogenic
17
VUS
1,717
Likely benign
38
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
56.3%
Abnormality of the nervous system
20.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of head or neck
12.5%
Abnormality of the ear
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
10.4%
Abnormality of blood and blood-forming tissues
8.3%
Growth abnormality
8.3%
Abnormality of limbs
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the respiratory system
6.3%
Abnormal cellular phenotype
4.2%
Neoplasm
4.2%
Abnormality of the endocrine system
2.1%
Abnormality of the voice
2.1%
Constitutional symptom
2.1%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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