Dilated cardiomyopathy - adult and teen

Gene: FKTN

Amber List (moderate evidence)

FKTN (fukutin)
EnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 25 panels

7 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52

James Eden (Manchester)

I don't know

Causative for Fukuyama-type congenital muscular dystrophy, limited association with DCM in isolation although some reports in HGMD.
Created: 18 Oct 2019, 3:03 p.m. | Last Modified: 18 Oct 2019, 3:03 p.m.
Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Red List (low evidence)

Not associated with primary non-syndromic DCM, but causes AR dystrophies (muscular dystrophy-dystroglycanopathy), so red list for a DCM panel, but should appear on syndromic cardiomyopathy panels
Created: 29 Apr 2019, 1:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Walker-Warburg syndrome (WWS); Fukuyama congenital muscular dystrophy; Cardiomyopathy, dilated, 1X

Publications

Rebecca Whittington (South West GLH)

I don't know

Cardiomyopathy, dilated, 1X OMIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, OMIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, OMIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, OMIM#611588.
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 4 variants 3 x DM but older literature.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Created: 24 Mar 2019, 10:19 a.m.
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On DDG2P linked with DCM
Created: 14 Feb 2016, 4:17 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.
Created: 17 Jan 2019, 5:41 p.m.

History Filter Activity

3 Dec 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FKTN were set to

24 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Mar 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FKTN was added gene: FKTN was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Wessex and West Midlands GLH,Radboud University Medical Center, Nijmegen,South West GLH Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Dilated Cardiomyopathy, Recessive; Cardiomyopathy, dilated, 1X