Home > Gene Browser > MCM9

MCM9

Synonyms
C6orf61, MCMDC1, ODG4, dJ329L24.1, dJ329L24.3
External resources
Summary
The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
24
Likely pathogenic
4
VUS
3,924
Likely benign
3,411
Benign
1,225

Patient phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on MCM9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37%
Abnormality of head or neck
25.9%
Abnormality of the eye
25.9%
Abnormality of the cardiovascular system
22.2%
Abnormality of the ear
14.8%
Abnormality of the musculoskeletal system
14.8%
Abnormality of the genitourinary system
11.1%
Abnormality of the integument
11.1%
Abnormality of the immune system
7.4%
Abnormality of limbs
3.7%
Abnormality of the breast
3.7%
Abnormality of the digestive system
3.7%
Growth abnormality
3.7%
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 endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

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