Hypertrophic cardiomyopathy - teen and adult
Gene: NEXN
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
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
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 evidenceCreated: 18 Sep 2019, 1:31 p.m. | Last Modified: 18 Sep 2019, 1:31 p.m.
Panel Version: 1.74
Publications
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
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.
Gene: nexn has been classified as Red List (Low Evidence).
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
Source London South GLH was added to NEXN.
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
NEXN was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene NEXN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NEXN was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
NEXN was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services