EMD

emerin
OMIM: 300384, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green EMD in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, MIM#310300
Amber EMD in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.54 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 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 1.3795	1 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 1.112 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	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 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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 0.111	0 reviews	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 0.208	0 reviews	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	0 reviews	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 1.481	2 reviews	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 2.15	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, MIM# 310300
Red EMD in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 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 2.0	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, MIM# 310300
Green EMD in Cardiac conduction disease Level 2: Cardiovascular disorders Version 1.5 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes heart conduction disease MONDO:0000992