Paediatric or syndromic cardiomyopathy
Gene: TNNI3KEnsemblGeneIds (GRCh38): ENSG00000116783
EnsemblGeneIds (GRCh37): ENSG00000116783
OMIM: 613932, Gene2Phenotype
TNNI3K is in 4 panels
1 review
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cardiac conduction disease with or without dilated cardiomyopathy 616117
- OMIM
- 613932
- Clinvar variants
- Variants in TNNI3K
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TNNI3K were changed from to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: TNNI3K was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TNNI3K was added gene: TNNI3K was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TNNI3K was set to