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ACADS

Synonyms
ACAD3, SCAD
External resources
Summary
This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms.

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
43
Likely pathogenic
54
VUS
963
Likely benign
7,062
Benign
5,007

Patient phenotypes

Proportions of phenotypes among 97 patients carring pathogenic or likely pathogenic variants on ACADS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.2%
Abnormality of the eye
29.9%
Abnormality of the musculoskeletal system
20.6%
Abnormality of head or neck
16.5%
Abnormality of the cardiovascular system
13.4%
Abnormality of the ear
11.3%
Growth abnormality
11.3%
Abnormality of the immune system
7.2%
Abnormality of the digestive system
6.2%
Abnormality of the integument
6.2%
Abnormality of limbs
5.2%
Abnormality of the genitourinary system
5.2%
Neoplasm
5.2%
Abnormality of the endocrine system
4.1%
Abnormality of blood and blood-forming tissues
3.1%
Abnormality of prenatal development or birth
2.1%
Abnormality of the respiratory system
2.1%
Abnormality of the voice
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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