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FXN_GAA 3

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Hypertrophic cardiomyopathy
Gene: NEXN

NEXN (nexilin F-actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000162614
EnsemblGeneIds (GRCh37): ENSG00000162614
OMIM: 613121, Gene2Phenotype
NEXN is in 7 panels

6 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.

Panel Version: 1.81

Created: 2 Dec 2019, 11:26 a.m.
Last Modified: 2 Dec 2019, 11:26 a.m.
Panel version: 1.81

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

Created: 19 Sep 2019, 9:57 a.m.
Last Modified: 19 Sep 2019, 9:57 a.m.
Panel version: 1.74

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

Created: 18 Sep 2019, 1:31 p.m.
Last Modified: 18 Sep 2019, 1:31 p.m.
Panel version: 1.74

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.53

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.

Created: 20 Feb 2019, 2:17 p.m.

Panel version: 1.44

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Created: 6 Jan 2016, 5:11 p.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
South West GLH
London South GLH
North West GLH
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Cardiomyopathy, hypertrophic, 20, OMIM:613876

OMIM

613121

Clinvar variants

Variants in NEXN

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Aug 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, familial hypertrophic, 20, ; Cardiomyopathy, hypertrophic, 20 (613876) to Cardiomyopathy, hypertrophic, 20, OMIM:613876

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nexn has been classified as Red List (Low Evidence).

21 Feb 2019, Gel status: 2