DSP

desmoplakin
OMIM: 125647, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green DSP in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.20

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
  • Striate keratoderma with woolly hair and cardiomyopathy
  • Keratosis palmoplantaris striata II, 612908
  • CARVAJAL SYNDROME
  • Dilated cardiomyopathy with woolly hair and keratoderma, 605676
  • Arrhythmogenic right ventricular dysplasia 8, 607450
  • Skin fragility-woolly hair syndrome, 607655
  • Epidermolysis bullosa, lethal acantholytic
  • Keratosis palmoplantaris striata II
  • Skin fragility-woolly hair syndrome
  • striate keratoderma
  • diffuse keratoderma
  • lethal acantholytic epidermolysis bullosa, 609638
  • alopecia, follicular hyperkeratoses and keratoderma
  • oligodontia or hypodontia

Green DSP in Ichthyosis and erythrokeratoderma


Version 1.68
Latest signed off version: v1.3 (15 Oct 2020)

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 1.6

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, 609638
  • Severe generalised Epidermolysis bullosa simplex
  • Lethal acantholytic epidermolysis bullosa
  • Skin fragility-woolly hair syndrome,607655

Green DSP in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic, OMIM:609638

Red DSP in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

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 1.22

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 1.9
Latest signed off version: v1.3 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders

Green DSP 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
    • North West GLH
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Keratosis palmoplantaris striata II (612908)
    • Skin fragility-woolly hair syndrome (607655)
    • Arrhythmogenic right ventricular dysplasia 8 (607450)
    • Epidermolysis bullosa, lethal acantholytic (609638)
    • Arrhythmogenic right ventricular dysplasia 8
    • Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
    • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)

    Green DSP in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.70

    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
    • Dilated cardiomyopathy with woolly hair and keratoderma

    Green DSP in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.25
    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 List
    • Expert Review Green
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Epidermolysis bullosa, lethal acantholytic (609638)
    • Skin fragility-woolly hair syndrome (607655)
    • Arrhythmogenic right ventricular dysplasia 8
    • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
    • Arrhythmogenic right ventricular dysplasia 8 (607450)
    • Keratosis palmoplantaris striata II (612908)
    • Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)

    Green DSP in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 8 607450
    • Keratosis palmoplantaris striata II, 612908
    • Cardiomyopathy, dilated, with woolly hair and keratoderma 605676
    • Skin fragility-woolly hair syndrome 607655
    • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821
    • Epidermolysis bullosa, lethal acantholytic 609638

    Red DSP in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.416

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green DSP in Cardiomyopathies - including childhood onset


    Version 1.56
    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
    • Dilated cardiomyopathy with woolly hair and keratoderma
    • Arrhythmogenic right ventricular dysplasia 8

    Red DSP in Hereditary neuropathy NOT PMP22 copy number


    Version 1.63
    Latest signed off version: v1.36 (5 Aug 2021)

    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 1.84

    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