Dilated Cardiomyopathy and conduction defects
Gene: FKTNComment 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
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 panelsCreated: 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
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
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.
Comment when marking as ready: On DDG2P linked with DCMCreated: 14 Feb 2016, 4:17 p.m.
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.
Gene: fktn has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to FKTN.
Source London South GLH was added to FKTN.
Source Wessex and West Midlands GLH was added to FKTN. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
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
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