1. Panels
  2. Cardiomyopathy_Paediatric
  3. TNNI3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cardiomyopathy_Paediatric

Gene: TNNI3

Green List (high evidence)
TNNI3 (troponin I3, cardiac type)
EnsemblGeneIds (GRCh38): ENSG00000129991
EnsemblGeneIds (GRCh37): ENSG00000129991
OMIM: 191044, Gene2Phenotype
TNNI3 is in 9 panels

1 review

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE evidence by ClinGen HCM working group PMID: 30681346
Created: 21 Jun 2020, 6:42 a.m. | Last Modified: 21 Jun 2020, 6:42 a.m.
Panel Version: 0.67

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
HCM

Publications

Created: 21 Jun 2020, 6:42 a.m.
Last Modified: 21 Jun 2020, 6:42 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.67

Details

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

History Filter Activity

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNNI3 was added gene: TNNI3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,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, dilated, 2A,; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Hypertrophic cardiomyopathy