Home > Gene Browser > LEO1

LEO1

Synonyms
RDL
External resources
Summary
LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005

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
3
Likely pathogenic
11
VUS
6,367
Likely benign
1,047
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on LEO1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
69.2%
Abnormality of the nervous system
38.5%
Abnormality of head or neck
30.8%
Abnormality of limbs
15.4%
Growth abnormality
15.4%
Abnormality of the cardiovascular system
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the ear
7.7%
Abnormality of the eye
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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