Hydrops fetalis
Gene: PKP2EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 11 panels
2 reviews
Suliman Khan (Victorian Clinical Genetics Services)
Phenotypes
Cardiomyopathy, MONDO:0004994, PKP2-related
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Reports of severe perinatal onset DCM and of HLH, some presenting with hydrops.
Sources: LiteratureCreated: 7 Dec 2023, 5 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy, MONDO:0005021, PKP2-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Dilated cardiomyopathy, MONDO:0005021, PKP2-related
- OMIM
- 602861
- Clinvar variants
- Variants in PKP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pkp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pkp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PKP2 was added gene: PKP2 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP2 were set to 30562116; 35059364; 38050058 Phenotypes for gene: PKP2 were set to Dilated cardiomyopathy, MONDO:0005021, PKP2-related Review for gene: PKP2 was set to GREEN