JUP

junction plakoglobin
OMIM: 173325, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green JUP in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.35	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Naxos disease, OMIM:601214 Palmoplantar keratoderma, keratoderma with woolly hair, generalised skin fragility, epidermolysis bullosa
Green JUP in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Naxos disease, OMIM:601214
Green JUP in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Naxos disease, OMIM:601214 Generalised skin fragility, epidermolysis bullosa
Green JUP in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.13 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Naxos disease, OMIM:601214 Generalised skin fragility, epidermolysis bullosa
Green JUP in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Naxos disease, OMIM:601214 Palmoplantar keratoderma, keratoderma with woolly hair
Green JUP in Arrhythmogenic right ventricular cardiomyopathy Level 2: Cardiology Version 3.15 Latest signed off version: v3.13 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Red JUP in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH London South GLH Expert list Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Green JUP in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 3.13 Latest signed off version: v3.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green South West GLH London South GLH North West GLH Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Red JUP in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green JUP in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green Phenotypes Naxos disease, OMIM:601214 Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Red JUP in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.43 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy