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Additional findings_Adult

Gene: FLNC

Green List (high evidence)
FLNC (filamin C)
EnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Included in ACMG SF V3.0, risk of sudden death with preventative interventions available.
Sources: Expert list
Created: 26 May 2021, 8:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, familial hypertrophic, 26, MIM# 617047

Publications

Created: 26 May 2021, 8:10 a.m.

Panel version: 0.131

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
OMIM
102565
Clinvar variants
Variants in FLNC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 May 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLNC was added gene: FLNC was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 34012068 Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26, MIM# 617047 Review for gene: FLNC was set to GREEN