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Dilated Cardiomyopathy and conduction defects

Gene: TTN

Green List (high evidence)
TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment 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
Created: 30 Sep 2019, 12:02 p.m.
Last Modified: 30 Sep 2019, 12:02 p.m.
Panel version: 1.63

Rebecca Whittington (South West GLH)

Green List (high evidence)

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#600334
Created: 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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 1.46

James Eden (Manchester)

Green List (high evidence)

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 1.47

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel; ideally ignore missense variation
Created: 14 Feb 2016, 4:25 p.m.
Created: 14 Feb 2016, 4:25 p.m.

Panel version: 0.7

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Tibial muscular dystrophy, tardive (600334)
  • Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
  • Cardiomyopathy, dilated, 1G
  • Cardiomyopathy, familial hypertrophic, 9 (613765)
  • Salih myopathy (611705)
  • Myopathy, proximal, with early respiratory muscle involvement (603689)
  • Cardiomyopathy, dilated, 1G (604145)
OMIM
188840
Clinvar variants
Variants in TTN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to TTN.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

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)

5 Sep 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 4

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

14 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 3

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

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 3

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

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 2

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

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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