Research panel - Severe Paediatric Disorders
Gene: FLNC

FLNC (filamin C)
EnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FLNC; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, familial hypertrophic, 26 (3) | Cardiomyopathy, familial restrictive 5, 617047 (3) | Myopathy, distal, 4, 614065 (3) | Myopathy, myofibrillar, 5, 609524 (3); Mode of inheritance: ND | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
Cardiomyopathy, familial restrictive 5, OMIM:617047
Hypertrophic cardiomyopathy 26, MONDO:0014883
Myopathy, distal, 4, OMIM:614065
Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
Myopathy, myofibrillar, 5, OMIM:609524
Myopathy, myofibrillar, 5, MONDO:0012289

OMIM

102565

Clinvar variants

Variants in FLNC

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FLNC were changed from Cardiomyopathy, familial restrictive 5, 617047; Cardiomyopathy, familial hypertrophic, 26; 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; Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289

21 Feb 2020, Gel status: 3