DSP

desmoplakin
OMIM: 125647, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
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 3.11
Latest signed off version: v3.10 (1 May 2024)

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 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 2.25
    Latest signed off version: v2.23 (1 May 2024)

    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 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 4.1
    Latest signed off version: v4.0 (1 May 2024)

    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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 1.478

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Green DSP in Paediatric or syndromic cardiomyopathy


    Version 4.6
    Latest signed off version: v4.0 (1 May 2024)

    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 4.11
    Latest signed off version: v4.0 (1 May 2024)

    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