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ACAD8

Synonyms
ACAD-8, ARC42, IBDH
External resources
Summary
This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.

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
6
Likely pathogenic
2
VUS
1,307
Likely benign
363
Benign
366

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on ACAD8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
100%
Abnormality of head or neck
71.4%
Abnormality of the nervous system
71.4%
Abnormality of limbs
42.9%
Abnormality of the integument
28.6%
Growth abnormality
28.6%
Abnormality of the ear
14.3%
Abnormality of the eye
14.3%
Abnormality of the immune system
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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