Paediatric or syndromic cardiomyopathy
Gene: MYPN
MYPN (myopalladin)
EnsemblGeneIds (GRCh38): ENSG00000138347
EnsemblGeneIds (GRCh37): ENSG00000138347
OMIM: 608517, Gene2Phenotype
MYPN is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000138347
EnsemblGeneIds (GRCh37): ENSG00000138347
OMIM: 608517, Gene2Phenotype
MYPN is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
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)
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
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
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
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