Dilated Cardiomyopathy and conduction defects
Gene: MYPN
Cardiomyopathy, dilated, 1KK OMIM#615248; Cardiomyopathy, familial restrictive, 4 OMIM#615248; Cardiomyopathy, hypertrophic, 22 OMIM#615248; Nemaline myopathy 11, autosomal recessive OMIM#617336Created: 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 - variant where func studies undertaken and seen in HCM and DCM has 294 alleles on Gnomad so suggest this is not a pathogenic variant. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. Haas 2015 Four variants listed assoc with DCM but three have quite high freq and the fourth is a nonsense with no freq. Summary: Quite a number of variants reported associated with DCM, just from two studies only 1/5 variants has no freq the other may be too high to be disease causing. Note in Purevjav struggling to tie up c. and p. nomenclature in Alamut in NM_032578.2 as quoted in paper.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 MYPN. Mode of inheritance for gene MYPN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to MYPN.
MYPN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
MYPN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
MYPN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list