Dilated Cardiomyopathy
Gene: EMDEnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 11 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with Emery-Dreifuss muscular dystrophy. DCM can be a feature. Can find no evidence of isolated DCM.
1 Chinese family was reported with a frameshift variant in EMD who initially presented with only DCM, but were found to also have very mild skeletal muscle degeneration once the variant was discovered (PMID: 24997722).
After discussion with ZS Emery-Dreifuss can be difficult to diagnose, therefore this gene belongs on this panel.
Sources: LiteratureCreated: 5 Aug 2020, 6:38 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
- OMIM
- 300384
- Clinvar variants
- Variants in EMD
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Prepair 500+
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: emd has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: emd has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: EMD was added gene: EMD was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EMD were set to 24997722 Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 Review for gene: EMD was set to AMBER gene: EMD was marked as current diagnostic