Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Hypertrophic cardiomyopathy v6.2 MYPN Ida Ertmanska Tag disputed tag was added to gene: MYPN.
Hypertrophic cardiomyopathy v6.2 MYPN Ida Ertmanska Classified gene: MYPN as Red List (low evidence)
Hypertrophic cardiomyopathy v6.2 MYPN Ida Ertmanska Gene: mypn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v6.1 MYPN Ida Ertmanska changed review comment from: The association between MYPN and Hypertrophic cardiomyopathy was classified as Disputed in ClinGen (Hereditary Cardiovascular Disease GCEP, 2023).; to: The association between MYPN and Hypertrophic cardiomyopathy was classified as Disputed in ClinGen (Hereditary Cardiovascular Disease GCEP, 2023), due to the lack of genetic evidence, minimal experimental evidence, and no new evidence since the initial curation.
Hypertrophic cardiomyopathy v6.1 MYPN Ida Ertmanska commented on gene: MYPN
Hypertrophic cardiomyopathy v1.74 MYPN Matthew Edwards reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.53 MYPN Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, hypertrophic, 22 (615248 )
Hypertrophic cardiomyopathy v1.52 MYPN Rebecca Whittington commented on gene: MYPN: 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
Hypertrophic cardiomyopathy v1.51 MYPN Rebecca Whittington reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYPN Ellen McDonagh Source South West GLH was added to MYPN.
Mode of inheritance for gene MYPN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.44 MYPN Ellen McDonagh reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.43 MYPN Ellen McDonagh Source London South GLH was added to MYPN.