Dilated Cardiomyopathy

Gene: FKTN

Amber List (moderate evidence)

FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 21 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

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
Created: 4 Aug 2020, 11:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1X MIM#611615

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fktn has been classified as Amber List (Moderate Evidence).

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fktn has been classified as Amber List (Moderate Evidence).

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fktn has been classified as Amber List (Moderate Evidence).

5 Aug 2020, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: FKTN.

4 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

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