Home > Gene Browser > MYRF
MYRF
- Synonyms
- 11orf9, C11orf9, CUGS, MMERV, MRF, Ndt80, pqn-47
- External resources
- NCBI745
- OMIM608329
- EnsemblENSG00000124920
- HGNCHGNC:1181
- 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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