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ELMO3

Synonyms
CED-12, CED12, ELMO-3
External resources
Summary
The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes.

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
42
Likely pathogenic
0
VUS
58,504
Likely benign
4,857
Benign
0

Patient phenotypes

Proportions of phenotypes among 42 patients carrying pathogenic or likely pathogenic variants on ELMO3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the eye
26.2%
Abnormality of the musculoskeletal system
21.4%
Abnormality of head or neck
19%
Abnormality of the integument
14.3%
Abnormality of blood and blood-forming tissues
11.9%
Abnormality of the genitourinary system
11.9%
Abnormality of the cardiovascular system
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the respiratory system
7.1%
Growth abnormality
7.1%
Abnormality of limbs
4.8%
Abnormality of prenatal development or birth
4.8%
Abnormality of the ear
4.8%
Abnormality of the endocrine system
2.4%
Neoplasm
2.4%
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%

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