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ANGEL1

Synonyms
Ccr4e, KIAA0759
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
9
Likely pathogenic
13
VUS
1,515
Likely benign
63
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on ANGEL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
31.8%
Abnormality of the cardiovascular system
27.3%
Abnormality of head or neck
22.7%
Abnormality of the musculoskeletal system
13.6%
Abnormality of the digestive system
9.1%
Abnormality of the integument
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of limbs
4.5%
Abnormality of the ear
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the immune system
4.5%
Constitutional symptom
4.5%
Growth abnormality
4.5%
Neoplasm
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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