EMD

emerin
OMIM: 300384, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green EMD in Progressive cardiac conduction disease Level 2: Cardiology Version 2.16 Latest signed off version: v2.15 (6 May 2026) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green South West GLH Phenotypes Heart conduction disease, MONDO:0000992
Red EMD in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources South West GLH Expert list Emory Genetics Laboratory
Green EMD in Congenital muscular dystrophy Level 2: Neurology Version 7.6 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300 Tags Skewed X-inactivation
Red EMD in Arthrogryposis Level 2: Neurology Version 10.5 Latest signed off version: v10.0 (6 May 2026)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Green EMD in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 6.1 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	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 Review Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Green EMD in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 4.1 Latest signed off version: v4.0 (6 May 2026) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS
Green EMD in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.10 Latest signed off version: v7.0 (6 May 2026)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE Additional Gene List Expert Review Green Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Red EMD in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green EMD in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.1 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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 NHS GMS South West GLH Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Red EMD in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy