Cardiomyopathies - including childhood onsetGene: FLII
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
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.
Created: 15 Apr 2021, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: flii has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: FLII.
Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021
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