Cardiomyopathy_Paediatric
Gene: FLII
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
Two unrelated families reported with homozygous missense variants. Emerging evidence: we are aware of two more families.
Sources: LiteratureCreated: 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
Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 2J, MIM# 620635
Publications for gene: FLII were set to 32870709
Gene: flii has been classified as Green List (High Evidence).
Gene: flii has been classified as Amber List (Moderate Evidence).
Gene: flii has been classified as Amber List (Moderate Evidence).
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