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  3. JUP
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Additional findings_Paediatric

Gene: JUP

Amber List (moderate evidence)
JUP (junction plakoglobin)
EnsemblGeneIds (GRCh38): ENSG00000173801
EnsemblGeneIds (GRCh37): ENSG00000173801
OMIM: 173325, Gene2Phenotype
JUP is in 14 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category B gene
  • BabySeq Category A gene
Phenotypes
  • Naxos disease
  • Arrhythmogenic right ventricular dysplasia 12
OMIM
173325
Clinvar variants
Variants in JUP
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 2

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category B gene was added to JUP. Source Expert Review Amber was added to JUP. Mode of inheritance for gene JUP was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arrhythmogenic right ventricular dysplasia 12 for gene: JUP Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Aug 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Naxos disease