JUP

junction plakoglobin
OMIM: 173325, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green JUP in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214
Amber JUP in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.12 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) Naxos disease, MIM# 601214
Green JUP in Desmosomal disorders Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Amber JUP in Epidermolysis bullosa Level 2: Dermatological disorders Version 2.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Naxos disease MIM#601214 Congenital epidermolysis bullosa
Green JUP in Mendeliome Version 2.742	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Green JUP in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Naxos disease (MIM#601214)
Green JUP in Ectodermal Dysplasia Level 2: Dermatological disorders Version 1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Green JUP in Hair disorders Level 2: Dermatological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Naxos disease, 601214
Green JUP in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 2.4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Disease associations Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Green JUP in Prepair 1000+ Level 2: Screening Version 3.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Disease associations Naxos disease MIM#601214
Amber JUP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category A gene BabySeq Category B gene Disease associations Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214 Tags treatable cardiac
Green JUP in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214
Green JUP in Genomic screening in children: BabyScreen+ Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214 Tags treatable cardiac