| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v0.56 | FKTN | Zornitza Stark Marked gene: FKTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.56 | FKTN | Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.56 | FKTN | Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.56 | FKTN | Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.56 | FKTN | Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.56 | FKTN | Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | FKTN | Zornitza Stark Tag SV/CNV tag was added to gene: FKTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | FKTN |
Paul De Fazio gene: FKTN was added gene: FKTN was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 17036286; 19015585 Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X MIM#611615 Review for gene: FKTN was set to AMBER gene: FKTN was marked as current diagnostic Added comment: Total 6 families (5 Japanese) with DCM and mild proximal muscle weakness. PMID 17036286: 4 Japanese families with dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence. The patients were chet for a 3kb retrotransposon in the FKTN 3' UTR (all patients) and a missense variant (either Gln358Pro or Arg179Thr, both absent from gnomAD). The 3kb insertion is associated with a common founder haplotype and is found in 87% of alleles causing autosomal recessive Fukuyama congenital muscular dystrophy. PMID 19015585: 1 patient with DCM, mild muscle involvement, and no brain involvement was chet for the 3kb insertion described above and Cys101Phe (absent from gnomad). The 3kb insertion was also found heterozygous in 2 other DCM patients and 3 controls. DOI: 10.1055/s-0036-1583659 (no PMID, only abstract available) describes 2 sibs of a consanguineous Turkish family with homozygous exon 3 deletion, who had mild, non-progressive proximal muscle weakness and DCM. Sources: Literature |
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