Cardiomyopathy_Paediatric
Gene: NEXN
ClinGen curation: Two probands reported in a single 2010 publication (Wang et al, PMID 20970104). Two unique missense variants were reported in this publication. The pathogenicity of one variant was supported by functional studies in a cell culture model system that showed mutant protein fragments accumulated in the cytoplasm and failed to bind to actin filaments. This variant also segregated with disease in 2 additional family members. The second variant reported by Wang et al. was found at a high frequency in the ExAC database, which is consistent with benign variation. The mechanism for disease is unknown. This gene-disease association is supported by a cell culture model system, expression studies and localization of NEXN to the intercalated disk (Hassel et al, 2009, PMID 1988149; Somi et al, 2016, 27148881), and interaction with alpha actin (Wang et al, PMID 20970104).
In summary: one family plus functional data.Created: 21 Jun 2020, 7:56 a.m. | Last Modified: 21 Jun 2020, 7:56 a.m.
Panel Version: 0.77
Phenotypes
Cardiomyopathy, hypertrophic, 20, MIM# 613876
Publications
LIMITED evidence by ClinGen HCM working group PMID: 30681346Created: 21 Jun 2020, 6:35 a.m. | Last Modified: 21 Jun 2020, 6:35 a.m.
Panel Version: 0.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HCM
Publications
gene: NEXN was added gene: NEXN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC