PKP2

plakophilin 2
OMIM: 602861, Gene2Phenotype

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	review	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 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	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 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related
Green PKP2 in Incidentalome Version 0.301	review	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 0.166	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 0.192	review	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	review	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	review	Unknown	Sources NSW Health Pathology Expert Review Green
Green PKP2 in Fetal anomalies Version 1.255	review	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 1.114	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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040