Cardiomyopathy_Paediatric
Gene: FLII

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

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

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

32870709

Created: 20 Mar 2021, 2:53 a.m.
Last Modified: 24 Mar 2021, 9:46 p.m.
Panel version: 0.173

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