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Cardiomyopathies - including childhood onset

Gene: FLII

Amber List (moderate evidence)

FLII (FLII, actin remodeling protein)
EnsemblGeneIds (GRCh38): ENSG00000177731
EnsemblGeneIds (GRCh37): ENSG00000177731
OMIM: 600362, Gene2Phenotype
FLII is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). 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.
Created: 16 Apr 2021, 8:50 a.m. | Last Modified: 16 Apr 2021, 8:50 a.m.
Panel Version: 1.30

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
Created: 15 Apr 2021, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags
Q2_21_rating
OMIM
600362
Clinvar variants
Variants in FLII
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: FLII.

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021

15 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FLII was added gene: FLII was added to Cardiomyopathies - including childhood onset. Sources: Literature 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 Review for gene: FLII was set to GREEN