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Cardiomyopathies - including childhood onset

Gene: MYPN

Green List (high evidence)

MYPN (myopalladin)
EnsemblGeneIds (GRCh38): ENSG00000138347
EnsemblGeneIds (GRCh37): ENSG00000138347
OMIM: 608517, Gene2Phenotype
MYPN is in 11 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Rebecca Whittington (South West GLH)

Green List (high evidence)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Cardiomypathy, familial hypertrophic, 22,
  • Cardiomyopathy, dilated, 1KK
OMIM
608517
Clinvar variants
Variants in MYPN
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MYPN.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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