EMD

emerin
OMIM: 300384, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber EMD in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Green EMD in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Green EMD in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Green EMD in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Green EMD in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Green EMD in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green South West GLH NHS GMS Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Green EMD in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, Emery-Dreifuss
Red EMD in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Green EMD in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Red EMD in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Green EMD in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)