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  3. PKP2
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Cardiomyopathy_Paediatric

Gene: PKP2

Green List (high evidence)
PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy, MONDO:0005021, PKP2-related

Created: 7 Dec 2023, 4:56 a.m.
Last Modified: 7 Dec 2023, 4:56 a.m.
Panel version: 0.175

Suliman Khan (Victorian Clinical Genetics Services)

PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.

PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).

PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.
Created: 7 Dec 2023, 2:03 a.m. | Last Modified: 7 Dec 2023, 2:03 a.m.
Panel Version: 0.174

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, MONDO:0004994, PKP2-related

Created: 7 Dec 2023, 2:03 a.m.
Last Modified: 7 Dec 2023, 2:03 a.m.
Panel version: 0.176

Details

Mode of Inheritance
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
OMIM
602861
Clinvar variants
Variants in PKP2
Penetrance
None
Panels with this gene

History Filter Activity

7 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy

7 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: pkp2 has been classified as Green List (High Evidence).

7 Dec 2023, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PKP2 was added gene: PKP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy