PKP2

plakophilin 2
OMIM: 602861, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red PKP2 in Palmoplantar keratodermas Version 1.18 Latest signed off version: v1.3 (15 Oct 2020)	review	Not set	Sources London North GLH NHS GMS Expert Review Red Phenotypes Desmosomal disorders
Red PKP2 in Short QT syndrome Version 2.14 Latest signed off version: v2.4 (20 Aug 2020) Component of the following Super Panels: Cardiac arrhythmias Sudden cardiac death	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040)
Green PKP2 in Arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.15 Latest signed off version: v2.9 (15 Oct 2020) Component of the following Super Panels: Sudden cardiac death	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Eligibility statement prior genetic testing Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9
Red PKP2 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.77	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Oxford Medical Genetics Laboratory
Red PKP2 in Brugada syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 2.33 Latest signed off version: v2.4 (20 Aug 2020) Component of the following Super Panels: Cardiac arrhythmias Sudden cardiac death	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Literature Phenotypes Brugada syndrome, MONDO:0015263
Green PKP2 in Dilated cardiomyopathy - adult and teen Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.27 Latest signed off version: v1.6 (15 Oct 2020) Component of the following Super Panels: Sudden cardiac death	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green South West GLH London South GLH North West GLH Phenotypes Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular dysplasia 9 (609040)
Red PKP2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.454	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green PKP2 in Cardiomyopathies - including childhood onset Version 1.75 Latest signed off version: v1.4 (19 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH Expert Review Green Phenotypes Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 9
Red PKP2 in Hereditary neuropathy NOT PMP22 copy number Version 1.103 Latest signed off version: v1.36 (5 Aug 2021)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy