DES

desmin
OMIM: 125660, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red DES in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Eligibility statement prior genetic testing UKGTN Phenotypes Striate keratoderma with woolly hair Cardiomyopathy, dilated, 1I
Green DES in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.29 Latest signed off version: v1.21 (11 Nov 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar 1, 601419
Green DES in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.12	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myopathy, myofibrillar, 1 601419
Red DES in Ichthyosis and erythrokeratoderma Version 1.60 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Striate keratoderma with woolly hair Cardiomyopathy, dilated, 1I
Green DES in Neuromuscular disorders Version 5.164 Latest signed off version: v5.43 (4 Mar 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myopathy, myofibrillar, 1, 601419 Muscular dystrophy, limb-girdle, type 2R Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 Myopathy, myofibrillar 1, 601419
Green DES in Progressive cardiac conduction disease Version 1.37 Latest signed off version: v1.5 (20 Aug 2020) Component of the following Super Panels: Sudden cardiac death	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Expert list Phenotypes Desminopathy-associated AV conduction block atrioventricular block (disease), MONDO:0000465
Red DES in Hypertrophic cardiomyopathy - teen and adult Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.21 Latest signed off version: v2.11 (15 Oct 2020) Component of the following Super Panels: Sudden cardiac death	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert list
Green DES in Arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.13 Latest signed off version: v2.9 (15 Oct 2020) Component of the following Super Panels: Sudden cardiac death	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert Review Green UKGTN Expert list Phenotypes Cardiomyopathy, dilated, 1I (604765) Myopathy, myofibrillar, 1 (601419) Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Green DES in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) Cardiomyopathy, dilated, 1I, Cardiomyopathy, dilated, 1I, (604765) Myopathy, myofibrillar, 1 (601419)
Red DES in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.98 Latest signed off version: v3.2 (13 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert list Phenotypes myofibrillar myopathy Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325 Myofibrillar Myopathy, Dominant
Red DES in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.28 Latest signed off version: v2.2 (2 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myopathy, myofibrillar, 1, 601419 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Green DES in Limb girdle muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.18 Latest signed off version: v2.4 (2 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2R, 615325 myofibrillar myopathy cardiomyopathy limb girdle muscular dystrophy
Green DES in Dilated cardiomyopathy - adult and teen Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.24 Latest signed off version: v1.6 (15 Oct 2020) Component of the following Super Panels: Sudden cardiac death	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) Myopathy, myofibrillar, 1 (601419) Cardiomyopathy, dilated, 1I, (604765) Cardiomyopathy, dilated, 1I,
Red DES in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.385	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green DES in Cardiomyopathies - including childhood onset Version 1.39 Latest signed off version: v1.4 (19 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Cardiomyopathy, dilated, 1I,
Red DES in Hereditary neuropathy NOT PMP22 copy number Version 1.25 Latest signed off version: v1.2 (27 Feb 2020)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green DES in Severe Paediatric Disorders Version 1.77	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 1, 601419 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 Cardiomyopathy, dilated, 1I, 604765