Cardiomyopathies - including childhood onsetGene: MYPN
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Cardiomyopathy, dilated, 1KK OMIM#615248; Cardiomyopathy, familial restrictive, 4 OMIM#615248; Cardiomyopathy, hypertrophic, 22 OMIM#615248; Nemaline myopathy 11, autosomal recessive OMIM#617336
Created: 25 Mar 2019, 4:30 p.m.
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. Cardiomyopathy is adult onset but other conditions can be paediatric onset with cardiac involvement.
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
Source NHS GMS was added to MYPN.
gene: MYPN was added gene: MYPN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYPN were set to Cardiomypathy, familial hypertrophic, 22,; Cardiomyopathy, dilated, 1KK