Dilated Cardiomyopathy and conduction defects

Gene: FKTN

Amber List (moderate evidence)

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

6 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber based on the expert reviews and also based on the gene rating on Dilated cardiomyopathy - adult and teen (version 1.0) which has been signed off by the GMS cardiology specialist group.
Created: 11 Dec 2019, 11:34 a.m. | Last Modified: 11 Dec 2019, 11:34 a.m.
Panel Version: 1.65

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

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

11 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to FKTN.

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to FKTN.

17 Jan 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source Wessex and West Midlands GLH was added to FKTN. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FKTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services