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EFNA3

Synonyms
EFL2, EPLG3, Ehk1-L, LERK3
External resources
Summary
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin.

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
486
Likely pathogenic
0
VUS
10,314
Likely benign
293
Benign
0

Patient phenotypes

Proportions of phenotypes among 252 patients carring pathogenic or likely pathogenic variants on EFNA3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.4%
Abnormality of the musculoskeletal system
31.3%
Abnormality of the cardiovascular system
26.2%
Abnormality of head or neck
23%
Abnormality of the eye
18.3%
Abnormality of the ear
17.1%
Abnormality of the genitourinary system
15.1%
Abnormality of limbs
13.9%
Growth abnormality
13.9%
Abnormality of the digestive system
12.3%
Abnormality of the integument
10.7%
Abnormality of the immune system
7.1%
Abnormality of the respiratory system
4.8%
Abnormality of the endocrine system
4%
Constitutional symptom
3.2%
Abnormality of blood and blood-forming tissues
2.8%
Abnormality of prenatal development or birth
2.4%
Neoplasm
2%
Abnormality of the voice
1.2%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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