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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.

Association between bi-allelic variants and Naxos: more than 5 unrelated families reported.
Created: 7 Mar 2022, 1:51 a.m. | Last Modified: 7 Mar 2022, 1:51 a.m.
Panel Version: 0.11160

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214

Publications

History Filter Activity

7 Mar 2022, 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).

7 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JUP were changed from to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214

7 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: JUP were set to

7 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: JUP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JUP was added gene: JUP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JUP was set to Unknown