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ACBD5

Synonyms
RDLKD
External resources
Summary
This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative 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
25
Likely pathogenic
0
VUS
2,105
Likely benign
4,930
Benign
0

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on ACBD5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of head or neck
28%
Abnormality of the cardiovascular system
28%
Abnormality of the musculoskeletal system
28%
Abnormality of the ear
20%
Growth abnormality
20%
Abnormality of the eye
16%
Abnormality of limbs
8%
Abnormality of prenatal development or birth
8%
Abnormality of the genitourinary system
8%
Abnormality of the immune system
8%
Abnormality of the digestive system
4%
Abnormality of the integument
4%
Abnormality of the respiratory system
4%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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