1. Panels
  2. Molecular autopsy
  3. TNNI3
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

Gene: TNNI3

Green List (high evidence)
TNNI3 (troponin I3, cardiac type)
EnsemblGeneIds (GRCh38): ENSG00000129991
EnsemblGeneIds (GRCh37): ENSG00000129991
OMIM: 191044, Gene2Phenotype
TNNI3 is in 7 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. 131 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 7 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, hypertrophic, 7 (613690)

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, dilated, 2A,
  • Cardiomyopathy, familial hypertrophic, 7
  • Cardiomyopathy, hypertrophic, 7 (613690)
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, dilated, 1FF
OMIM
191044
Clinvar variants
Variants in TNNI3
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 TNNI3.

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 TNNI3. Added phenotypes Cardiomyopathy, hypertrophic, 7 (613690); ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210) for gene: TNNI3 Publications for gene TNNI3 were changed from to 27532257; 20186049; 28369730

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TNNI3 was added gene: TNNI3 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TNNI3 were set to Cardiomyopathy, familial hypertrophic, 7; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 2A,; Cardiomyopathy, dilated, 1FF