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Severe Paediatric Disorders

Gene: DSP

Green List (high evidence)

DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DSP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arrhythmogenic right ventricular dysplasia 8, 607450 (3) | Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) | Epidermolysis bullosa, lethal acantholytic, 609638 (3) | Keratosis palmoplantaris striata II, 612908 (3) | Skin fragility-woolly hair syndrome, 607655 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
125647
Clinvar variants
Variants in DSP
Penetrance
None
Publications
Panels with this gene