Progressive cardiac conduction disease
Gene: TNNI3K
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, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Not currently tested in Manchester. Small number of variants in HGMD but consistently associated with conduction disease.Created: 2 Oct 2019, 9:45 a.m. | Last Modified: 2 Oct 2019, 9:45 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac conduction disease with or without dilated cardiomyopathy 616117
Publications
OMIM: cardiac conduction with/without DCM. A number of families reported one patient at 3.5years. HGMD: Four variants missense and one splice. Four literature reports, with reasonable segregation suggested: Fan 2018 (PMID 29355681); Podliesna 2019; Xi 2015 (PMID 25791106); Theis 2014 (PMID: 24925317). Conduction defects appear to be presenting feature.Created: 27 Sep 2019, 10:32 a.m. | Last Modified: 27 Sep 2019, 10:35 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac conduction disease with or without dilated cardiomyopathy 616117
Comment on list classification: 3 unrelated cases of Cardiac conduction disease with or without dilated cardiomyopathy with plausible disease causing variants in the TNNI3K gene.Created: 16 Jan 2019, 2:42 p.m.
Added to this panel on advice from Genomics England Clinical Team.
TNNI3K associated with Cardiac conduction disease with or without dilated cardiomyopathy in OMIM.
3 cases reported of families with cardiac conduction disease with or without dilated cardiomyopathy (PMID: 24925317 (Theis et al 2014), 25791106 (Xi et al 2015), 29355681 (Fan et al 2018)). Variants segregate within the 3 families. 3 different heterozygous variants found; G526D, T539A and a splice site variant (c.333 + 2 T > C) which may result in a premature stop codon.
Has also been added to the Cardiac arrhythmias GMS Rare Disease Virtual panel
Sources: LiteratureCreated: 16 Jan 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac conduction disease with or without dilated cardiomyopathy 616117
Publications
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, OMIM:616117
Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Gene: tnni3k has been classified as Green List (High Evidence).
gene: TNNI3K was added gene: TNNI3K was added to Progressive cardiac conduction disease. Sources: Literature Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNNI3K were set to 24925317; 25791106; 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