Arrhythmogenic right ventricular cardiomyopathy
Gene: FLNCEnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 11 panels
5 reviews
Sarah Leigh (Genomics England Curator)
Comment 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
Ivone Leong (Genomics England Curator)
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
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
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
Ellen McDonagh (Genomics England Curator)
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.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
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
- Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- Phenotypes
-
- Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
- Cardiomyopathy, familial restrictive 5, OMIM:617047
- Hypertrophic cardiomyopathy 26, MONDO:0014883
- OMIM
- 102565
- Clinvar variants
- Variants in FLNC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- Progressive cardiac conduction disease
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Distal myopathies
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FLNC were set to 27908349; 26666891
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FLNC were changed from v to Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524)
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: flnc has been classified as Green List (High Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: FLNC were changed from to v
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FLNC were set to 27908349
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: flnc has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: FLNC were set to
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: flnc has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)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