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Additional findings_Adult

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, familial restrictive, MIM#1 115210; Cardiomyopathy, hypertrophic, 7 , MIM#613690

Created: 30 Jul 2020, 10:21 a.m.
Last Modified: 30 Jul 2020, 10:21 a.m.
Panel version: 0.105

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1FF, MIM# 613286
  • Cardiomyopathy, familial restrictive, MIM#1 115210
  • Cardiomyopathy, hypertrophic, 7 , MIM#613690
OMIM
191044
Clinvar variants
Variants in TNNI3
Penetrance
None
Panels with this gene

History Filter Activity

30 Jul 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).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, familial restrictive, MIM#1 115210; Cardiomyopathy, hypertrophic, 7 , MIM#613690

30 Jul 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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 Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: TNNI3 was set to Unknown