Incidentalome_PREGEN_DRAFT
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
1 review
Tony Roscioli (New South Wales Health Pathology)
A cause of a Mendelian disorder that could present in fetal life or early childhoodCreated: 4 Dec 2020, 4:32 a.m. | Last Modified: 4 Dec 2020, 4:32 a.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NSW Health Pathology
- Expert Review Green
- OMIM
- 125647
- Clinvar variants
- Variants in DSP
- Penetrance
- None
- 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
9 Nov 2020, Gel status: 3
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 Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: DSP was set to Unknown