Previous cardiomyopathies - including childhood onset
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.
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 South West GLH was added to MYPN. Mode of inheritance for gene MYPN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Eleanor Williams: Comment on list classification
Mode of inheritance for gene: MYPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: mypn has been classified as Amber List (Moderate Evidence).
Source Expert Review Red was added to MYPN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Added phenotypes Cardiomypathy, familial hypertrophic, 22, for gene: MYPN
gene: MYPN was added gene: MYPN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber Mode of inheritance for gene: MYPN was set to Unknown Phenotypes for gene: MYPN were set to Cardiomyopathy, dilated, 1KK