Arrhythmogenic Cardiomyopathy
Gene: DSPEnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 17 panels
2 reviews
Ivan Macciocca (Victorian Clinical Genetics Services)
reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVECreated: 27 May 2021, 5:14 a.m. | Last Modified: 27 May 2021, 5:14 a.m.
Panel Version: 0.47
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ARVC, palmoplantar keratoderma, wool hair, Carvajal syndrome
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Association of bi-allelic variants and Carvajal syndrome is also well established (ARVC, woolly hair, PPK), although ClinGen have only assessed association between mono-allelic variants and ARVC.Created: 27 May 2021, 5:37 a.m. | Last Modified: 27 May 2021, 5:37 a.m.
Panel Version: 0.48
DEFINITIVE by ClinGen. Multiple families, gene-disease association supported by mouse model.Created: 3 Oct 2020, 9:30 a.m. | Last Modified: 3 Oct 2020, 9:30 a.m.
Panel Version: 0.39
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
- Carvajal syndrome
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Carvajal syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DSP were set to 15941723; 25765472; 23954618; 20864495; 21397041; 24938629; 22240500
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dsp has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DSP were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DSP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DSP was added gene: DSP was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSP was set to Unknown