Dilated Cardiomyopathy and conduction defects
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 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)
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
Rebecca Whittington (South West GLH)
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)
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 DCMCreated: 14 Feb 2016, 4:17 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- South West GLH
- London South GLH
- Wessex and West Midlands GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cardiomyopathy, dilated, 1X
- Dilated Cardiomyopathy, Recessive
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Congenital disorders of glycosylation
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Cerebellar hypoplasia
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Dilated and arrhythmogenic cardiomyopathy
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fktn has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to FKTN.
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to FKTN.
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)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
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
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