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Cardiomyopathies - including childhood onset

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: MOI corrected.
Created: 3 Dec 2019, 9:57 a.m. | Last Modified: 3 Dec 2019, 9:57 a.m.
Panel Version: 0.45
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

?Cardiomyopathy, dilated, 2A OMIM#611880; Cardiomyopathy, dilated, 1FF OMIM#613286; Cardiomyopathy, familial restrictive, 1 OMIM#115210; Cardiomyopathy, hypertrophic, 7 OMIM#613690
Created: 25 Mar 2019, 4:30 p.m.
Key cardiomyopathy gene. Mean age of onset in fourth decade but can also have very early onset as described by van den Wijngaard Neth Heart J (2011) 19:344351 in a number of paediatric cases with RCM and LVNC. Experience in the lab of paeditatric onset disease.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 7
  • Cardiomyopathy, dilated, 1FF
  • Cardiomyopathy, dilated, 2A,
OMIM
191044
Clinvar variants
Variants in TNNI3
Penetrance
None
Panels with this gene

History Filter Activity

3 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TNNI3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TNNI3.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: TNNI3 was added gene: TNNI3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: TNNI3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNI3 were set to Hypertrophic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Cardiomyopathy, dilated, 2A,