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EDAR

Synonyms
DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1
External resources
Summary
This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia.

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
13
Likely pathogenic
2
VUS
3,818
Likely benign
2,926
Benign
1,120

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on EDAR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.5%
Abnormality of the integument
38.5%
Abnormality of head or neck
30.8%
Abnormality of the genitourinary system
30.8%
Abnormality of the cardiovascular system
23.1%
Abnormality of the nervous system
23.1%
Abnormality of the musculoskeletal system
15.4%
Abnormality of limbs
7.7%
Abnormality of the ear
7.7%
Abnormality of the immune system
7.7%
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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