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  3. TNNI3
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Sudden cardiac death - previous panel

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: Imported from Molecular autopsy 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: Imported from Molecular autopsy 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
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 7
  • Hypertrophic cardiomyopathy
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, dilated, 1FF
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, dilated, 2A,
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, hypertrophic, 7 (613690)
OMIM
191044
Clinvar variants
Variants in TNNI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: TNNI3 was added gene: TNNI3 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNNI3 were set to 27532257; 28369730; 20186049 Phenotypes for gene: TNNI3 were set to Cardiomyopathy, familial hypertrophic, 7; Hypertrophic cardiomyopathy; ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF; Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, hypertrophic, 7 (613690)