1. Panels
  2. Paediatric or syndromic cardiomyopathy
  3. TNNI3
Genes in panel
Prev Next
STRs in panel
Prev Next

Paediatric or syndromic cardiomyopathy

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
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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: Imported from Previous cardiomyopathies - including childhood onset panel version 1.9

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,