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ERICH6

Synonyms
C3orf44, ERICH6A, FAM194A
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
73
Likely pathogenic
0
VUS
8,339
Likely benign
856
Benign
0

Patient phenotypes

Proportions of phenotypes among 72 patients carring pathogenic or likely pathogenic variants on ERICH6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
29.2%
Abnormality of the eye
23.6%
Abnormality of the cardiovascular system
19.4%
Abnormality of the musculoskeletal system
16.7%
Abnormality of head or neck
13.9%
Abnormality of the ear
13.9%
Abnormality of limbs
11.1%
Abnormality of the genitourinary system
11.1%
Growth abnormality
11.1%
Abnormality of the digestive system
5.6%
Abnormality of the immune system
5.6%
Neoplasm
5.6%
Abnormality of the integument
4.2%
Abnormality of blood and blood-forming tissues
2.8%
Abnormality of prenatal development or birth
2.8%
Abnormality of the endocrine system
2.8%
Constitutional symptom
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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