Hypertrophic cardiomyopathy - teen and adult

Gene: NEXN

Amber List (moderate evidence)

NEXN (nexilin F-actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000162614
EnsemblGeneIds (GRCh37): ENSG00000162614
OMIM: 613121, Gene2Phenotype
NEXN is in 6 panels

5 reviews

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 43 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy 20 (accessed 29/01/2019).
Created: 19 Sep 2019, 9:57 a.m. | Last Modified: 19 Sep 2019, 9:57 a.m.
Panel Version: 1.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

On CGGL Royal Brompton panel currently. Several VUS reported. Limited evidence in literature, mostly experimental evidence, and limited association with HCM according to ClinGen. Needs more evidence
Created: 18 Sep 2019, 1:31 p.m. | Last Modified: 18 Sep 2019, 1:31 p.m.
Panel Version: 1.74

Publications

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiomyopathy, hypertrophic, 20 (613876 )
Created: 25 Mar 2019, 4:30 p.m.
Functional data only 28369730. Included as a minor HCM gene in 28790153. 2 pathogenic variants reported to HGMD associated with HCM: 20970104 - 1 MAF 0.6%, other present in 2 alleles. Lots of VUS.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1CC (613122)
  • Cardiomyopathy, familial hypertrophic, 20,
  • Cardiomyopathy, hypertrophic, 20 (613876)
OMIM
613121
Clinvar variants
Variants in NEXN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to NEXN. Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to NEXN.

14 Feb 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to NEXN. Added phenotypes Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876) for gene: NEXN Publications for gene NEXN were changed from to 27532257; 20970104

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NEXN was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NEXN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NEXN was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEXN was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services