Cardiomyopathy_Paediatric
Gene: JUP
JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- South West GLH
- NHS GMS
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 12
- OMIM
- 173325
- Clinvar variants
- Variants in JUP
- Penetrance
- None
- Panels with this gene
-
- Epidermolysis bullosa
- Transplant Co-Morbidity Superpanel
- Desmosomal disorders
- Palmoplantar Keratoderma and Erythrokeratoderma
- Ectodermal Dysplasia
- Mackenzie's Mission_Reproductive Carrier Screening
- Arrhythmogenic Cardiomyopathy
- Hair disorders
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: JUP was added gene: JUP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12