JUP

junction plakoglobin
OMIM: 173325, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green JUP in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 0.76 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 Phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214
Amber JUP in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.55 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) Naxos disease, MIM# 601214
Green JUP in Desmosomal disorders Level 2: Dermatological disorders Version 0.35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Amber JUP in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.24	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Naxos disease MIM#601214 Congenital epidermolysis bullosa
Green JUP in Mendeliome Version 1.4216	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Green JUP in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Naxos disease (MIM#601214)
Green JUP in Additional findings_Adult Level 2: Screening Version 1.131	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214
Green JUP in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.106	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Green JUP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Naxos disease, 601214 (3)
Green JUP in Hair disorders Level 2: Dermatological disorders Version 0.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Naxos disease, 601214
Green JUP in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.217	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214
Amber JUP in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category B gene BabySeq Category A gene Phenotypes Naxos disease Arrhythmogenic right ventricular dysplasia 12
Green JUP in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Naxos disease MIM#601214
Amber JUP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category A gene BabySeq Category B gene Phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214 Tags cardiac treatable
Green JUP in Transplant Co-Morbidity Level 2: Screening Version 0.21	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214