Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v3.13 | NEXN | Ida Ertmanska commented on gene: NEXN: Comment on mode of inheritance: There are now more than 3 cases reported for both mono- and bi- allelic NEXN-related dilated cardiomyopathy cases. Hence, the MOI should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v3.13 | NEXN | Ida Ertmanska Publications for gene: NEXN were set to 19881492; 27532257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v3.12 | NEXN | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes updated 10th Mar 2026. Both dominant and recessive forms of NEXN-related dilated cardiomyopathy are now included in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v3.12 | NEXN | Ida Ertmanska Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC, OMIM:613122 to Cardiomyopathy, dilated, 1CC, OMIM:613122; Cardiomyopathy, dilated, 2M, autosomal recessive, OMIM:621261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v3.11 | NEXN | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: NEXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v3.11 | NEXN |
Ida Ertmanska changed review comment from: Literature review by Achchuthan Shanmugasundram (Genomics England Curator) copied from Paediatric or syndromic cardiomyopathy: 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.; to: Literature review by Achchuthan Shanmugasundram (Genomics England Curator) copied from Paediatric or syndromic cardiomyopathy: 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v3.11 | NEXN | Ida Ertmanska reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32058062, 33027564, 33949776, 35166435; Phenotypes: Cardiomyopathy, dilated, 1CC, OMIM:613122, Cardiomyopathy, dilated, 2M, autosomal recessive, OMIM:621261; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.28 | NEXN | Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC to Cardiomyopathy, dilated, 1CC, OMIM:613122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.62 | NEXN |
Ivone Leong Source Expert Review Green was added to NEXN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.61 | NEXN | Kate Thomson reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.52 | NEXN | Ivone Leong reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.46 | NEXN | James Eden edited their review of gene: NEXN: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.44 | NEXN | Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism); to: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism). Keep as amber for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.44 | NEXN | Matthew Edwards reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: None; Publications: 19881492; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.19 | NEXN | Ellen McDonagh Classified gene: NEXN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.19 | NEXN | Ellen McDonagh Gene: nexn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.18 | NEXN | Ellen McDonagh Classified gene: NEXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.18 | NEXN | Ellen McDonagh Added comment: Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has a Red review from one of these labs and therefore demoted to Amber for further discussion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.18 | NEXN | Ellen McDonagh Gene: nexn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.0 | NEXN |
Ellen McDonagh gene: NEXN was added gene: NEXN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEXN were set to 19881492; 27532257 Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876); Cardiomyopathy, dilated, 1CC |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||