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Molecular autopsy

Gene: TTN

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

2 reviews

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: 0.86

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: 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

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

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1G
  • 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, familial hypertrophic, 9,
  • Cardiomyopathy, dilated, 1G (604145)
OMIM
188840
Clinvar variants
Variants in TTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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: 4

Added New Source, Set Phenotypes, Set publications

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 http://www.ncbi.nlm.nih.gov/pubmed/22335739 to 27532257; 20186049

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TTN was added gene: TTN was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739 Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9,