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  3. FLII
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Dilated and arrhythmogenic cardiomyopathy

Gene: FLII

Amber List (moderate evidence)
FLII (FLII, actin remodeling protein)
EnsemblGeneIds (GRCh38): ENSG00000177731
EnsemblGeneIds (GRCh37): ENSG00000177731
OMIM: 600362, Gene2Phenotype
FLII is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.
Created: 30 Jan 2023, 2:04 p.m. | Last Modified: 30 Jan 2023, 2:04 p.m.
Panel Version: 2.4
Created: 30 Jan 2023, 2:04 p.m.
Last Modified: 30 Jan 2023, 2:04 p.m.
Panel version: 2.4

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is also on Cardiomyopathies - including childhood onset (Version 1.30).

"Two unrelated families reported with homozygous missense variants in PMID 32870709. Geng (2021): Shown to affect sarcomere size in Drosophila model. FliI knockdown resulted in disorganised myofibrils and increase filamentous actin. Campbell (2002): Hom mice - lethal, het - normal. K/O mouse model of related genes have cytoskeletal actin alterations. No survivors to observed cardiac phenotypes. We are aware of a third family ascertained through our laboratory. Sources: Literature
Zornitza Stark (Australian Genomics), 15 Apr 2021"

This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Sources: Literature
Created: 16 Apr 2021, 8:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy, MONDO:0005021

Publications

Created: 16 Apr 2021, 8:52 a.m.

Panel version: 1.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
OMIM
600362
Clinvar variants
Variants in FLII
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: FLII.

16 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Apr 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: FLII was added gene: FLII was added to Dilated cardiomyopathy - adult and teen. Sources: Literature Q2_21_rating tags were added to gene: FLII. Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLII were set to 32870709 Phenotypes for gene: FLII were set to Dilated cardiomyopathy, MONDO:0005021 Review for gene: FLII was set to GREEN