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ERI1

Synonyms
3'HEXO, HEXO, THEX1
External resources

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
98
Likely pathogenic
0
VUS
4,969
Likely benign
238
Benign
0

Patient phenotypes

Proportions of phenotypes among 98 patients carring pathogenic or likely pathogenic variants on ERI1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.9%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
29.6%
Abnormality of the eye
28.6%
Abnormality of the cardiovascular system
22.4%
Abnormality of limbs
18.4%
Abnormality of the integument
14.3%
Growth abnormality
10.2%
Abnormality of the ear
9.2%
Abnormality of the genitourinary system
8.2%
Abnormality of the endocrine system
7.1%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the digestive system
5.1%
Abnormality of the immune system
3.1%
Abnormality of the respiratory system
3.1%
Constitutional symptom
1%
Neoplasm
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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