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ERICH5

Synonyms
C8orf47
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
18
Likely pathogenic
0
VUS
789
Likely benign
65
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on ERICH5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
38.9%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
27.8%
Abnormality of the digestive system
16.7%
Abnormality of the ear
16.7%
Abnormality of prenatal development or birth
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the immune system
11.1%
Growth abnormality
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of limbs
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the genitourinary system
5.6%
Abnormality of the integument
5.6%
Abnormality of the respiratory system
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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