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DDG2P

Gene: MYRF

Amber List (moderate evidence)

MYRF (myelin regulatory factor)
EnsemblGeneIds (GRCh38): ENSG00000124920
EnsemblGeneIds (GRCh37): ENSG00000124920
OMIM: 608329, Gene2Phenotype
MYRF is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P October 2019: Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome. G2P Allelic requirement: monoallelic. G2P Mutation consequence: loss of function. G2P Disease confidence rating: probable.
Created: 26 Nov 2019, 12:02 p.m. | Last Modified: 26 Nov 2019, 12:02 p.m.
Panel Version: 1.152

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome
OMIM
608329
Clinvar variants
Variants in MYRF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MYRF was added gene: MYRF was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 31069960; 29446546; 30532227; 30070761 Phenotypes for gene: MYRF were set to Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome