Hypertrophic cardiomyopathy
Gene: MYPN
On CGGL Royal Brompton panel currently, but only single VUS reported so far. Very limited evidence in literature. Needs much more evidenceCreated: 18 Sep 2019, 1:34 p.m. | Last Modified: 18 Sep 2019, 1:34 p.m.
Panel Version: 1.74
Cardiomyopathy, hypertrophic, 22 (615248 )Created: 25 Mar 2019, 4:30 p.m.
Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. MYPN mutations cause either a cardiac (AD) or a congenital skeletal muscle disorder (AR) through different modes of inheritance pUBMED 28220527. Functional evidence only - 28082330, 28369730Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Lacks evidence. Variants reported in the literature in both HCM and DCM cases; however, significant segregation not described.Created: 6 Jan 2016, 5:11 p.m.
Source South West GLH was added to MYPN. Mode of inheritance for gene MYPN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to MYPN.
MYPN was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
MYPN was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
MYPN was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen