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  3. TNNI3
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Dilated Cardiomyopathy

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

2 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

Publications

Created: 18 May 2021, 8:50 a.m.
Last Modified: 18 May 2021, 8:50 a.m.
Panel version: 0.139

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

Mode of pathogenicity
Other

Created: 21 Feb 2020, 4:07 a.m.
Last Modified: 21 Feb 2020, 4:07 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1FF, MIM#613286
Tags
for review
OMIM
191044
Clinvar variants
Variants in TNNI3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

18 May 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TNNI3.

18 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNNI3 were changed from ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369 to Cardiomyopathy, dilated, 1FF, MIM#613286

18 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNNI3 were set to 15607392

18 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnni3 has been classified as Green List (High Evidence).

22 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNNI3 were changed from to ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369

22 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNNI3 were set to

22 Feb 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TNNI3 was changed from to Other

22 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNNI3 was added gene: TNNI3 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNNI3 was set to Unknown