Arrhythmogenic right ventricular cardiomyopathy
Gene: FLNCComment on publications: PMID 31924696 reports two new trucating variants in cases of arrhythmogenic right ventricular cardiomyopathy.Created: 8 Jun 2020, 11:29 a.m. | Last Modified: 8 Jun 2020, 11:29 a.m.
Panel Version: 2.6
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45
On Royal Brompton diagnostic panel. Likely pathogenic variants (LOF) detected in patients with arrythmogenic cardiomyopathies. Several literature reports providing good evidence. Definitive gene validity curation by ClinGen Expert Panel.Created: 23 Aug 2019, 10:02 a.m. | Last Modified: 23 Aug 2019, 10:02 a.m.
Panel Version: 1.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (OMIM:617047); Myopathy, distal, 4 (OMIM: 614065); Myopathy, myofibrillar, 5 (OMIM:609524
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from Amber to Green based on two expert reviews and Definitive gene validity curation by ClinGen Expert Panel.Created: 20 Nov 2019, 10:36 a.m. | Last Modified: 20 Nov 2019, 10:36 a.m.
Panel Version: 1.43
Comment when marking as ready: After discussion in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should remain Amber until more evidence arises.Created: 4 Mar 2019, 9:01 p.m.
Comment on list classification: Promoted from Red to Amber due to new review. For discussion with the NHSE GMS cardiology specialist group.Created: 17 Jan 2019, 6:13 p.m.
Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.Created: 17 Jan 2019, 6:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FLNC were changed from Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524) to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883
Publications for gene: FLNC were set to 27908349; 26666891
Phenotypes for gene: FLNC were changed from v to Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524)
Gene: flnc has been classified as Green List (High Evidence).
Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FLNC were changed from to v
Publications for gene: FLNC were set to 27908349
Gene: flnc has been classified as Amber List (Moderate Evidence).
Publications for gene: FLNC were set to
Gene: flnc has been classified as Amber List (Moderate Evidence).
gene: FLNC was added gene: FLNC was added to Arrhythmogenic cardiomyopathy. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FLNC was set to