Dilated Cardiomyopathy
Gene: JUPEnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Note DCM is also a feature of Naxos disease, though additional features also present.Created: 5 Aug 2020, 6:21 a.m. | Last Modified: 5 Aug 2020, 6:21 a.m.
Panel Version: 0.65
Paul De Fazio (Victorian Clinical Genetics Services)
Definitive for ARVC by ClinGen but no association with DCM that I can find. This gene is green on PanelApp GEL DCM panel due to phenotypic overlap.
Sources: LiteratureCreated: 5 Aug 2020, 3:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)
- Naxos disease, MIM# 601214
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jup has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528); Naxos disease, MIM# 601214
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jup has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: JUP was added gene: JUP was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) Review for gene: JUP was set to AMBER gene: JUP was marked as current diagnostic