Dilated Cardiomyopathy (DCM)
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 23 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment on mode of inheritance: Biallelic on DDG2PCreated: 11 Feb 2016, 2:02 p.m.
Comment when marking as ready: On DDG2P linked with DCMCreated: 11 Feb 2016, 2:02 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- Publications
-
- http://europepmc.org/abstract/MED/17036286
- Panels with this gene
-
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy or pain disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Hydrocephalus
- Congenital disorders of glycosylation
- Arthrogryposis
- Hereditary neuropathy
- Fetal anomalies
- Structural eye disease
- DDG2P
- Dilated and arrhythmogenic cardiomyopathy
- Malformations of cortical development
- Congenital muscular dystrophy
History Filter Activity
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for FKTN was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Caroline Wright (Genomics England Curator)Publications for FKTN were set to http://europepmc.org/abstract/MED/17036286
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 (DCM)panel. 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 (DCM)panel. 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 (DCM)panel. 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 (DCM)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services