Sudden cardiac death - previous panel
Gene: TTNEnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
2 reviews
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.
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. 346 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Myopathy, proximal, with early respiratory muscle involvement (603689); Salih myopathy (611705); Tibial muscular dystrophy, tardive (600334)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, familial hypertrophic, 9,
- Cardiomyopathy, dilated, 1G
- Cardiomyopathy, familial hypertrophic, 9 (613765)
- Salih myopathy (611705)
- Myopathy, proximal, with early respiratory muscle involvement (603689)
- Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
- Cardiomyopathy, dilated, 1G (604145)
- Tibial muscular dystrophy, tardive (600334)
- OMIM
- 188840
- Clinvar variants
- Variants in TTN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Paediatric disorders - additional genes
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TTN was added gene: TTN was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to 27532257; 20186049 Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9 (613765); Salih myopathy (611705); Myopathy, proximal, with early respiratory muscle involvement (603689); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Cardiomyopathy, dilated, 1G (604145); Tibial muscular dystrophy, tardive (600334)