PKP2

plakophilin 2
OMIM: 602861, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PKP2 in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 0.68 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Green PKP2 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.37 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arrhythmogenic right ventricular dysplasia 9 (MIM#609040) Dilated cardiomyopathy, MONDO:0005021, PKP2-related hypoplastic left heart syndrome hydrops fetalis ventricular septal defect left ventricular non-compaction
Green PKP2 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related
Green PKP2 in Incidentalome Version 0.318	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 Dilated cardiomyopathy, MONDO:0005021, PKP2-related Tags cardiac
Green PKP2 in Additional findings_Adult Level 2: Screening Version 0.169	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Green PKP2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular cardiomyopathy
Amber PKP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Arrhythmogenic right ventricular dysplasia 9
Green PKP2 in Incidentalome_PREGEN_DRAFT Version 0.43	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green PKP2 in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related dilated cardiomyopathy hypoplastic left heart syndrome hydrops fetalis ventricular septal defect left ventricular non-compaction
Amber PKP2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 Tags for review cardiac treatable
Green PKP2 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040