MYRF Chromosome 11
Myelin regulatory factor
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What This Gene Does
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. [provided by RefSeq, Nov 2014]
Associated Conditions (15)
Inborn genetic diseases
Congenital diaphragmatic hernia
Heart
malformation of
Urogenital tract malformation
MYRF-related disorder
Nanophthalmos 1
Encephalitis/encephalopathy
mild
with reversible myelin vacuolization
Cardiac-urogenital syndrome
Non-immune hydrops fetalis
Disorder of sexual differentiation
Neurodevelopmental disorder
Dextrocardia
Key Variants
RS138785249
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2066476390
Conflicting classifications of pathogenicity
Congenital diaphragmatic hernia, Heart, malformation of
Health Risk
RS2540954215
Conflicting classifications of pathogenicity
Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
Health Risk
RS374193411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS769274302
Conflicting classifications of pathogenicity
Non-immune hydrops fetalis, Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
Health Risk
RS775076363
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1027079885
Likely pathogenic
Congenital diaphragmatic hernia, Heart, malformation of
Health Risk
RS1162309498
Likely pathogenic
Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
Health Risk
RS1202514159
Likely pathogenic
Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
Health Risk
RS1565295267
Likely pathogenic
Health Risk
RS2066051319
Likely pathogenic
Congenital diaphragmatic hernia, Heart, malformation of
Health Risk
RS2066302424
Likely pathogenic
Heart, malformation of, Urogenital tract malformation
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753113267 | Health Risk | Pathogenic | Cardiac-urogenital syndrome, Cardiac-urogenital syndrome |
| RS1565295550 | Health Risk | Pathogenic/Likely pathogenic | Cardiac-urogenital syndrome, Urogenital tract malformation, Congenital diaphragmatic hernia |