Palmoplantar keratodermas
Gene: PKP2
PKP2 (plakophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000057294
EnsemblGeneIds (GRCh37): ENSG00000057294
OMIM: 602861, Gene2Phenotype
PKP2 is in 10 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PKP2; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Details
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Desmosomal disorders
- OMIM
- 602861
- Clinvar variants
- Variants in PKP2
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Brugada syndrome and cardiac sodium channel disease
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PKP2.
28 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PKP2 was added gene: PKP2 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PKP2 was set to Phenotypes for gene: PKP2 were set to Desmosomal disorders