Differences of Sex Development
Gene: MYRFEnsemblGeneIds (GRCh38): ENSG00000124920
EnsemblGeneIds (GRCh37): ENSG00000124920
OMIM: 608329, Gene2Phenotype
MYRF is in 5 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30985895; 4 unrelated families with de novo variants. 1 family includes monozygotic twins
Sources: LiteratureCreated: 20 Apr 2020, 5:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
disorders of sex development
Publications
- PMID: 30985895
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- disorders of sex development
- OMIM
- 608329
- Clinvar variants
- Variants in MYRF
- Penetrance
- None
- Publications
-
- PMID: 30985895
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myrf has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myrf has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: MYRF was added gene: MYRF was added to Disorders of Sex Differentiation. Sources: Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYRF were set to PMID: 30985895 Phenotypes for gene: MYRF were set to disorders of sex development Review for gene: MYRF was set to GREEN