Dilated cardiomyopathy - adult and teenGene: FLII
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.
Created: 16 Apr 2021, 8:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Dilated cardiomyopathy, MONDO:0005021
Gene: flii has been classified as Amber List (Moderate Evidence).
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