Palmoplantar keratoderma and erythrokeratodermas
Gene: DSPComment when marking as ready: 1 Green review plus >3 variants in unrelated families reported for various OMIM disorders featuring keratodermas including (OMIM:612908, OMIM:615821, OMIM:605676). Prior genetic testing of desmosomal genes (which includes DSP) is required for 'Striate keratoderma with woolly hair'. Not currently a confirmed DD gene for any disorders but plenty of literature linking DSP to palmoplantar keratoderma.Created: 5 Jan 2017, 1:55 p.m.
Comment on mode of inheritance: -Keratosis palmoplantaris striata II (PPKS2, OMIM:612908) is caused by heterozygous mutations in DSP.
-Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (OMIM:615821) is caused by heterozygous mutations in DSP.
-Cardiomyopathy, dilated, with woolly hair and keratoderma (OMIM:605676) is caused by homozygous mutations in DSP.Created: 5 Jan 2017, 1:41 p.m.
Can be heterozygous, compound heterozygous and homozygousCreated: 16 Nov 2015, 7:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Striate keratoderma with woolly hair and cardiomyopathy; striate keratoderma; diffuse keratoderma; lethal acantholytic epidermolysis bullosa; skin fragility, alopecia, follicular hyperkeratoses and keratoderma; oligodontia or hypodontia
Publications
Phenotypes for gene: DSP were changed from 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 to 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)
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
Phenotypes for DSP were set to 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
Phenotypes for gene DSP were set to Striate keratoderma with woolly hair and cardiomyopathy;Arrhythmogenic right ventricular dysplasia 8;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;Dilated cardiomyopathy with woolly hair and keratoderma;Epidermolysis bullosa, lethal acantholytic;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome;Dilated cardiomyopathy with woolly hair and keratoderma, 605676;Arrhythmogenic right ventricular dysplasia 8, 607450;Skin Fragility-Woolly Hair Syndrome;striate keratoderma;diffuse keratoderma;lethal acantholytic epidermolysis bullosa, 609638;alopecia, follicular hyperkeratoses and keratoderma;oligodontia or hypodontia
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DSP was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for DSP were set to 26303123; 11841538; 11063735; 10594734; 20738328; 19924139; 16628197; 16175511; 25516398; 22795705; 20940358
Phenotypes for DSP were set to Striate keratoderma with woolly hair and cardiomyopathy; Arrhythmogenic right ventricular dysplasia 8; Keratosis palmoplantaris striata II, 612908; Dilated cardiomyopathy with woolly hair and keratoderma, 605676; Arrhythmogenic right ventricular dysplasia 8, 607450; Skin fragility-woolly hair syndrome, 607655; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic; Keratosis palmoplantaris striata II; Skin fragility-woolly hair syndrome; Dilated cardiomyopathy with woolly hair and keratoderma, 605676; Arrhythmogenic right ventricular dysplasia 8, 607450; Skin Fragility-Woolly Hair Syndrome; striate keratoderma; diffuse keratoderma; lethal acantholytic epidermolysis bullosa, 609638; alopecia, follicular hyperkeratoses and keratoderma; oligodontia or hypodontia
Mode of inheritance for DSP was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene DSP was set to BIALLELIC, autosomal or pseudoautosomal
DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN
DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing, UKGTN
DSP was created by ellenmcdonagh