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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

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
13
Likely pathogenic
12
VUS
7,687
Likely benign
2,576
Benign
1,905

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on ACAD9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the cardiovascular system
32%
Abnormality of head or neck
24%
Abnormality of the eye
24%
Abnormality of the musculoskeletal system
16%
Abnormality of blood and blood-forming tissues
12%
Abnormality of the ear
12%
Abnormality of the integument
12%
Abnormality of limbs
8%
Neoplasm
8%
Abnormality of prenatal development or birth
4%
Abnormality of the digestive system
4%
Abnormality of the endocrine system
4%
Abnormality of the genitourinary system
4%
Abnormality of the immune system
4%
Abnormality of the respiratory system
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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