Dilated Cardiomyopathy (DCM)
Gene: TTNEnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On Manchester diagnostic panel; ideally ignore missense variationCreated: 11 Feb 2016, 2:24 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Truncating variants in A-band region detected in 12-15% of DCM patients. However, also detected in ~0.5% of control individuals. Very strong evidence for A-band truncating variants as a whole, but little evidence (esp. segregation) for most such variants when considered individually, due to reduced penetrance. The significance of missense changes is largely unknown.Created: 6 Jan 2016, 5:12 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cardiomyopathy, dilated, 1G
- OMIM
- 188840
- Clinvar variants
- Variants in TTN
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Distal myopathies
- Paediatric disorders - additional genes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)TTN was added to Dilated Cardiomyopathy (DCM)panel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for TTN was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for TTN 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).
Added New Source
Ellen McDonagh (Genomics England Curator)TTN was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TTN was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TTN was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TTN was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)TTN was added to Dilated Cardiomyopathy (DCM)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list