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Cardiomyopathy_Paediatric

Gene: FLII

Green List (high evidence)

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Two unrelated families reported with homozygous missense variants. Emerging evidence.

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.
Created: 24 Mar 2021, 4:10 a.m. | Last Modified: 24 Mar 2021, 4:10 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported with homozygous missense variants. Emerging evidence: we are aware of two more families.
Sources: Literature
Created: 20 Mar 2021, 2:53 a.m. | Last Modified: 24 Mar 2021, 9:46 p.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2J, MIM# 620635

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2J, MIM# 620635
OMIM
600362
Clinvar variants
Variants in FLII
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 2J, MIM# 620635

24 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FLII were set to 32870709

24 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Mar 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: FLII was added gene: FLII was added to Cardiomyopathy_Paediatric. 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 AMBER