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  3. TNNI3K
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Dilated Cardiomyopathy

Gene: TNNI3K

Green List (high evidence)
TNNI3K (TNNI3 interacting kinase)
EnsemblGeneIds (GRCh38): ENSG00000116783
EnsemblGeneIds (GRCh37): ENSG00000116783
OMIM: 613932, Gene2Phenotype
TNNI3K is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: At least 6 multigenerational families reported where variants segregated with disease.
Created: 12 Mar 2020, 4:57 a.m. | Last Modified: 12 Mar 2020, 4:57 a.m.
Panel Version: 0.22
Created: 12 Mar 2020, 4:57 a.m.
Last Modified: 12 Mar 2020, 4:57 a.m.
Panel version: 0.22

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

mutliple families reported. Green on England PanelApp
Sources: Expert list
Created: 12 Mar 2020, 4:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiac conduction disease with or without dilated cardiomyopathy 616117

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Mar 2020, 4:52 a.m.

Panel version: 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
OMIM
613932
Clinvar variants
Variants in TNNI3K
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnni3k has been classified as Green List (High Evidence).

12 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117

12 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnni3k has been classified as Green List (High Evidence).

12 Mar 2020, Gel status: 0

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

Ivan Macciocca (Victorian Clinical Genetics Services)

gene: TNNI3K was added gene: TNNI3K was added to Dilated Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNI3K were set to 30010057; 29355681 Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117 Review for gene: TNNI3K was set to GREEN gene: TNNI3K was marked as current diagnostic