Dilated Cardiomyopathy and conduction defects
Gene: TTNComment on mode of inheritance: MOI was corrected.Created: 30 Sep 2019, 12:02 p.m. | Last Modified: 30 Sep 2019, 12:02 p.m.
Panel Version: 1.63
Cardiomyopathy, dilated, 1G OMIM#604145; Cardiomyopathy, familial hypertrophic, 9 OMIM#613765; Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM#608807; Myopathy, proximal, with early respiratory muscle involvement#603689; Salih myopathy OMIM#611705; Tibial muscular dystrophy, tardive OMIM#600334Created: 25 Mar 2019, 4:30 p.m.
Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 25% of DCM patients) and Pugh (2014) Genet Med 16, 601. Also refer to Roberts (2015) Sci Transl Med 7: 270ra6.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and 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.
Gene currently tested on Manchester cardiac gene panel. 346 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).Created: 15 Feb 2019, 8:56 a.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
Comment when marking as ready: On Manchester diagnostic panel; ideally ignore missense variationCreated: 14 Feb 2016, 4:25 p.m.
Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source South West GLH was added to TTN. Mode of inheritance for gene TTN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source London South GLH was added to TTN.
Source North West GLH was added to TTN. Added phenotypes Tibial muscular dystrophy, tardive (600334); Myopathy, proximal, with early respiratory muscle involvement (603689); Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807); Cardiomyopathy, familial hypertrophic, 9 (613765); Salih myopathy (611705); Cardiomyopathy, dilated, 1G (604145) for gene: TTN Publications for gene TTN were changed from to 27532257; 20186049 Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN
TTN was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN