Home > Gene Browser > UTP18

UTP18

Synonyms
CGI-48, WDR50
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
84
Likely pathogenic
0
VUS
2,716
Likely benign
115
Benign
0

Patient phenotypes

Proportions of phenotypes among 84 patients carring pathogenic or likely pathogenic variants on UTP18 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
71.4%
Abnormality of the musculoskeletal system
60.7%
Abnormality of head or neck
53.6%
Abnormality of the eye
38.1%
Abnormality of the integument
36.9%
Abnormality of limbs
34.5%
Growth abnormality
29.8%
Abnormality of the digestive system
21.4%
Abnormality of the ear
20.2%
Abnormality of the cardiovascular system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the respiratory system
14.3%
Abnormality of the immune system
11.9%
Abnormality of prenatal development or birth
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the breast
3.6%
Abnormality of the voice
2.4%
Neoplasm
2.4%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes