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Prepair 1000+

Gene: JUP

Green List (high evidence)

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The JUP gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Naxos disease MIM#601214.

Naxos disease is a cardiocutaneous syndrome characterized by woolly hair, palmoplantar keratoses, arrhythmogenic right ventricular cardiomyopathy, and commonly, left ventricular involvement (PMID: 34587761).
Created: 9 Jan 2025, 5:10 a.m. | Last Modified: 9 Jan 2025, 5:10 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Naxos disease MIM#601214

Publications

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jup has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JUP were changed from Naxos disease, 601214 (3) to Naxos disease MIM#601214

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: JUP were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Naxos disease, 601214 (3)