Dilated Cardiomyopathy and conduction defectsGene: PKP2
Arrhythmogenic right ventricular dysplasia 9 OMIM#609040
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 8 variants assoc with DCM all ?DM, 6 reported by Walsh, 1 x Dal Ferro and 1 x Elliot 2010: This variant p.Ser140Phe was detected in three unrelated DCM patients. No family studies.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Source South West GLH was added to PKP2. Mode of inheritance for gene PKP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to PKP2.
This gene has been classified as Red List (Low Evidence).
PKP2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory
PKP2 was created by OxfordGenetics