Arrhythmogenic cardiomyopathy

Gene: FLNC

Green List (high evidence)

FLNC (filamin C)
EnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 12 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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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
Phenotypes
  • Arrhythmogenic cardiomyopathy
  • Cardiomyopathy, familial restrictive 5 (617047)
  • Myopathy, distal, 4 (614065)
  • Myopathy, myofibrillar, 5 (609524)
OMIM
102565
Clinvar variants
Variants in FLNC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jun 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FLNC were set to 27908349; 26666891

2 Dec 2019, Gel status: 3

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)

20 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: flnc has been classified as Green List (High Evidence).

20 Nov 2019, Gel status: 2

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

3 Oct 2019, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: FLNC were changed from to v

12 Sep 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FLNC were set to 27908349

4 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: flnc has been classified as Amber List (Moderate Evidence).

17 Jan 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: FLNC were set to

17 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: flnc has been classified as Amber List (Moderate Evidence).

17 Jan 2019, Gel status: 1

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