Hypertrophic cardiomyopathy

Gene: MYPN

I don't know

On CGGL Royal Brompton panel currently, but only single VUS reported so far. Very limited evidence in literature. Needs much more evidence

Created: 18 Sep 2019, 1:34 p.m. | Last Modified: 18 Sep 2019, 1:34 p.m.

Panel Version: 1.74

I don't know

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, 28369730

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

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.

Red List (low evidence)

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.