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Cardiomyopathy_Paediatric

Gene: NEXN

Green List (high evidence)

NEXN (nexilin F-actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000162614
EnsemblGeneIds (GRCh37): ENSG00000162614
OMIM: 613121, Gene2Phenotype
NEXN is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

LIMITED evidence by ClinGen HCM working group PMID: 30681346
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
  • NHS GMS
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 20,
  • Cardiomyopathy, dilated, 1CC
OMIM
613121
Clinvar variants
Variants in NEXN
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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