DSP

desmoplakin
OMIM: 125647, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green DSP in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.31	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN UKGTN Eligibility statement prior genetic testing Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Keratosis palmoplantaris striata II, OMIM:612908 (AD)
Green DSP in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Keratosis palmoplantaris striata II, OMIM:612908 Epidermolysis bullosa, lethal acantholytic, OMIM:609638 Skin fragility-woolly hair syndrome, OMIM:607655 Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
Green DSP in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, lethal acantholytic, OMIM:609638 Skin fragility-woolly hair syndrome, OMIM:607655
Green DSP in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epidermolysis bullosa, lethal acantholytic, OMIM:609638 Skin fragility-woolly hair syndrome, OMIM:607655
Red DSP in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ectodermal Dysplasia/Skin Fragility Syndrome
Red DSP in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.28	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Ectodermal Dysplasia/Skin Fragility Syndrome
Green DSP in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Keratosis palmoplantaris striata II, OMIM:612908 (AD)
Green DSP in Arrhythmogenic right ventricular cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 3.9 Latest signed off version: v3.5 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Green DSP in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert Review Green Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Green DSP in Dilated and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.22 Latest signed off version: v2.8 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Green DSP in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Epidermolysis bullosa, lethal acantholytic, OMIM:609638 (AR) Skin fragility-woolly hair syndrome, OMIM:607655 (AR) Keratosis palmoplantaris striata II, OMIM:612908 (AD) Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Green DSP in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DSP-related developmental disorder
Red DSP in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green DSP in Paediatric or syndromic cardiomyopathy Version 3.47 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Red DSP in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green DSP in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 Skin fragility-woolly hair syndrome, 607655 Arrhythmogenic right ventricular dysplasia 8, 607450 Keratosis palmoplantaris striata II, 612908 Epidermolysis bullosa, lethal acantholytic, 609638