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Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams Tag Q2_24_MOI was removed from gene: NEXN.
Tag Q2_24_NHS_review was removed from gene: NEXN.
Paediatric or syndromic cardiomyopathy v5.12 NEXN Eleanor Williams reviewed gene: NEXN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.11 NEXN Eleanor Williams Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.7 NEXN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Hannah Robinson, there is sufficient evidence available for updating the MOI from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.7 NEXN Achchuthan Shanmugasundram Mode of inheritance for gene: NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram edited their review of gene: NEXN: Added comment: PMID:32058062 - One male foetus was reported with compound heterozygous NEXN variants (c.1756A > T & c.1909_1912del) and dilated cardiomyopathy.

PMID:33027564 - One case was identified with dilated and hypertrophic cardiomyopathy and with compound heterozygous NEXN variants (p.Arg216Ter & p.Lys536fs). However, it was not possible to determine the phase (whether cis or trans) on the basis of exome sequencing.

PMID:33949776 - One patient presented with fetal hydrops at 33  weeks gestation requiring emergency caesarian delivery. Postnatally she required ventilation and continuous inotropic support for left ventricle systolic dysfunction. She died after 2 weeks when therapy was withdrawn. Homozygous c.1174C > T (p.Arg392Ter) variant in the NEXN gene was identified in this patient.

PMID:35166435 - A female from a four-generation Swedish family comprising 42 individuals had three three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Homozygous NEXN variant (c.1302del/ p.Ile435Serfs*3) was identified in these foetuses.

In addition to these peer reviewed cases, additional biallelic cases were reported in the following reports: 10.1016/j.jsha.2013.03.180 & 10.1016/j.gimo.2023.100620.

The phenotypes associated with monoallelic variants are already reported in OMIM. However, phenotypes associated with biallelic variants are not yet reported either in OMIM or in Gene2Phenotype.; Changed publications to: 32058062, 33027564, 33949776, 35166435
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: NEXN.
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: NEXN.
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32058062, 32058062, 35166435; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.3 NEXN Hannah Robinson reviewed gene: NEXN: Rating: ; Mode of pathogenicity: None; Publications: 35166435, 33949776, 33027564, 32058062; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Paediatric or syndromic cardiomyopathy v1.76 NEXN Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC; Cardiomyopathy, familial hypertrophic, 20, to Cardiomyopathy, dilated, 1CC, OMIM:613122; Cardiomyopathy, hypertrophic, 20, OMIM:613876
Paediatric or syndromic cardiomyopathy v0.16 NEXN Ivone Leong reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 NEXN Ivone Leong Source NHS GMS was added to NEXN.
Paediatric or syndromic cardiomyopathy v0.1 NEXN Ivone Leong gene: NEXN was added
gene: NEXN was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC; Cardiomyopathy, familial hypertrophic, 20,