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EYS

Synonyms
C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, RP25, SPAM, bA166P24.2, bA307F22.3, bA74E24.1, dJ1018A4.2, dJ22I17.2, dJ303F19.1
External resources
Summary
The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.

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
194
Likely pathogenic
189
VUS
16,651
Likely benign
7,021
Benign
2,125

Patient phenotypes

Proportions of phenotypes among 365 patients carrying pathogenic or likely pathogenic variants on EYS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.1%
Abnormality of the eye
26.8%
Abnormality of the cardiovascular system
21.1%
Abnormality of the musculoskeletal system
18.6%
Abnormality of head or neck
14%
Abnormality of the ear
9.9%
Abnormality of the genitourinary system
9.6%
Growth abnormality
7.7%
Abnormality of the integument
6%
Abnormality of limbs
4.1%
Abnormality of blood and blood-forming tissues
3%
Abnormality of the digestive system
3%
Abnormality of the endocrine system
3%
Abnormality of the immune system
2.5%
Abnormality of prenatal development or birth
1.4%
Neoplasm
1.4%
Abnormality of the respiratory system
1.1%
Abnormal cellular phenotype
0.5%
Abnormality of the breast
0.3%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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