Hair disorders
Gene: DSP
DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 17 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Skin fragility-woolly hair syndrome, 607655
- Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676
- Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821
- OMIM
- 125647
- Clinvar variants
- Variants in DSP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ectodermal Dysplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Adult
- Arrhythmogenic Cardiomyopathy
- Hair disorders
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Palmoplantar Keratoderma and Erythrokeratoderma
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Dilated Cardiomyopathy
- Epidermolysis bullosa
- Desmosomal disorders
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DSP was added gene: DSP was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSP were set to 31332722 Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome, 607655; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821