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ERCC6

Synonyms
ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
External resources
Summary
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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
16
Likely pathogenic
3
VUS
4,293
Likely benign
2,669
Benign
1,562

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on ERCC6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.4%
Abnormality of the musculoskeletal system
31.6%
Growth abnormality
31.6%
Abnormality of the eye
21.1%
Abnormality of blood and blood-forming tissues
15.8%
Abnormality of head or neck
15.8%
Abnormality of limbs
15.8%
Abnormality of the ear
15.8%
Abnormality of the cardiovascular system
10.5%
Abnormality of the integument
10.5%
Abnormality of the digestive system
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the respiratory system
5.3%
Constitutional symptom
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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