Anophthalmia_Microphthalmia_Coloboma
Gene: MYRFEnsemblGeneIds (GRCh38): ENSG00000124920
EnsemblGeneIds (GRCh37): ENSG00000124920
OMIM: 608329, Gene2Phenotype
MYRF is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported.
Sources: Expert listCreated: 29 Jan 2020, 11:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nanophthalmos; High hyperopia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Nanophthalmos
- High hyperopia
- OMIM
- 608329
- Clinvar variants
- Variants in MYRF
- Penetrance
- None
- Publications
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYRF was added gene: MYRF was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYRF were set to 31048900; 31172260; 31266062; 31700225 Phenotypes for gene: MYRF were set to Nanophthalmos; High hyperopia Review for gene: MYRF was set to GREEN