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MSH4

Synonyms
-
External resources
Summary
This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair.

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
0
VUS
9,502
Likely benign
2,242
Benign
451

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on MSH4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
52.2%
Abnormality of the nervous system
47.8%
Abnormality of head or neck
30.4%
Abnormality of the cardiovascular system
30.4%
Abnormality of limbs
21.7%
Abnormality of the ear
21.7%
Abnormality of the eye
17.4%
Growth abnormality
17.4%
Abnormality of the genitourinary system
13%
Abnormality of the integument
13%
Abnormality of the endocrine system
8.7%
Neoplasm
8.7%
Abnormality of prenatal development or birth
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the respiratory system
4.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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