| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paediatric or syndromic cardiomyopathy v1.65 | FLII | Ivone Leong Tag Q2_21_rating was removed from gene: FLII. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.65 | FLII | Ivone Leong commented on gene: FLII: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.30 | FLII | Ivone Leong Classified gene: FLII as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.30 | FLII | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.30 | FLII | Ivone Leong Gene: flii has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.29 | FLII | Ivone Leong Tag Q2_21_rating tag was added to gene: FLII. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.29 | FLII | Ivone Leong Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.19 | FLII |
Zornitza Stark 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 Added comment: 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 |
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