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ACAD9

Synonyms
MC1DN20, NPD002
External resources
Summary
This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.

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
7
Likely pathogenic
3
VUS
4,012
Likely benign
1,124
Benign
1,641

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on ACAD9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
40%
Abnormality of the eye
40%
Abnormality of the cardiovascular system
20%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Abnormality of blood and blood-forming tissues
10%
Abnormality of prenatal development or birth
10%
Abnormality of the ear
10%
Abnormality of the endocrine system
10%
Neoplasm
10%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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