Home > Gene Browser > MYRF

MYRF

Synonyms
11orf9, C11orf9, CUGS, MMERV, MRF, Ndt80, pqn-47
External resources
Summary
This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants.

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
363
Likely pathogenic
1
VUS
4,992
Likely benign
5,288
Benign
2,203

Patient phenotypes

Proportions of phenotypes among 229 patients carrying pathogenic or likely pathogenic variants on MYRF gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.8%
Abnormality of the musculoskeletal system
27.5%
Abnormality of the cardiovascular system
24%
Abnormality of head or neck
21.4%
Abnormality of the eye
19.2%
Growth abnormality
14.8%
Abnormality of the integument
13.1%
Abnormality of the ear
11.4%
Abnormality of the digestive system
9.6%
Abnormality of limbs
8.3%
Abnormality of the genitourinary system
7.9%
Abnormality of the immune system
7.4%
Abnormality of blood and blood-forming tissues
5.7%
Abnormality of the endocrine system
4.8%
Abnormality of the respiratory system
4.8%
Abnormality of prenatal development or birth
3.5%
Neoplasm
3.1%
Constitutional symptom
2.2%
Abnormality of the breast
1.3%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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