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Cardiomyopathies - including childhood onset

Gene: FLNC

Green List (high evidence)

FLNC (filamin C)
EnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 13 panels

1 review

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, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
  • Myopathy, myofibrillar, 5, OMIM:609524
  • Myopathy, myofibrillar, 5, MONDO:0012289
OMIM
102565
Clinvar variants
Variants in FLNC
Penetrance
None
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 to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: FLNC was added gene: FLNC was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLNC was set to