Incidentalome
Gene: TNNI3

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with mono-allelic variants in this gene and DCM, supportive functional data.

Limited evidence for bi-allelic disease.

MODERATE by ClinGen.
Created: 18 May 2021, 8:50 a.m. | Last Modified: 18 May 2021, 8:50 a.m.

Panel Version: 0.139

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1FF, MIM#613286; Cardiomyopathy, hypertrophic, 7, MIM# 613690

Publications

Created: 18 May 2021, 8:50 a.m.
Last Modified: 18 May 2021, 8:50 a.m.
Panel version: 0.157

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

PMID: 30681346

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

AR inheritance only reported for single fam (OMIM)

Reduced penetrance reported

Missense causing both GOF and LOF reported
Created: 21 Feb 2020, 4:07 a.m. | Last Modified: 21 Feb 2020, 4:07 a.m.

Panel Version: 0.7

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369

Publications

PMID: 15607392

Mode of pathogenicity
Other

Created: 21 Feb 2020, 4:07 a.m.
Last Modified: 21 Feb 2020, 4:07 a.m.
Panel version: Imported from Dilated Cardiomyopathy panel version 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, dilated, 1FF, MIM#613286
Cardiomyopathy, hypertrophic, 7, MIM# 613690
Cardiomyopathy, familial restrictive, MIM#1115210

Tags

cardiac

OMIM

191044

Clinvar variants

Variants in TNNI3

Penetrance

None

Publications

Panels with this gene