Hypertrophic cardiomyopathy - teen and adult

Gene: TTN

Red List (low evidence)

TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 18 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiomyopathy, familial hypertrophic, 9 (613765)
Created: 25 Mar 2019, 4:30 p.m.
Limited evidence for HCM
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Caroline Wright (Genomics England Curator)

Comment on publications: Supports as cause of DCM but not HCM
Created: 11 Feb 2016, 3:17 p.m.
Comment on mode of inheritance: Only strong evidence of causality with biallelic LOF mutations
Created: 11 Feb 2016, 3:14 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Suggest removal from HCM panel
Created: 6 Jan 2016, 5:11 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 9,
OMIM
188840
Clinvar variants
Variants in TTN
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/pubmed/22335739
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

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 BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Feb 2016, Gel status: 3

Set publications

Caroline Wright (Genomics England Curator)

Publications for TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739

11 Feb 2016, Gel status: 3

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for TTN was changed to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 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

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

13 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

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services