DES

desmin
OMIM: 125660, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DES in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 0.73 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Tags for review
Green DES in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.48 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 MONDO:0011482
Green DES in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.10 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desminopathy
Green DES in Mendeliome Version 1.3499	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature ClinGen Expert Review Green Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Myofibrillar myopathy 1, MONDO:0011076 Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Green DES in Additional findings_Adult Level 2: Screening Version 1.130	0 reviews	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 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	4 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myofibrillar myopathy 1, MONDO:0011076
Green DES in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.25 Component of the following Super Panels: Neuromuscular Superpanel	2 reviews	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 0.207	1 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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene BabySeq Category A gene Phenotypes Cardiomyopathy, dilated Myopathy, myofibrillar
Red DES in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene BabySeq Category B gene Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765
Green DES in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	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
Green DES in Cardiac conduction disease Level 2: Cardiovascular disorders Version 1.3 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes heart conduction disease MONDO:0000992