DES

desmin
OMIM: 125660, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green DES in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 0.68 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419 Arrhythmogenic right ventricular cardiomyopathy Tags for review
Green DES in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 MONDO:0011482
Red DES in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 0.178 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy Dilated cardiomyopathy Myofibrillar myopathy ARVC
Green DES in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419 Arrhythmogenic right ventricular cardiomyopathy
Green DES in Additional findings_Adult Level 2: Screening Version 0.166	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419
Green DES 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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 1 601419
Green DES in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Neuromuscular Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 1 , MIM#601419
Green DES in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Cardiomyopathy, dilated, 1I,
Amber DES in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene BabySeq Category A gene Phenotypes Cardiomyopathy, dilated Myopathy, myofibrillar
Amber DES in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber BabySeq Category B gene Phenotypes Myopathy, myofibrillar Cardiomyopathy, dilated
Green DES in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419