Cardiac arrhythmias - previous panel
Gene: TNNI3K
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, 2:01 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 Progressive cardiac conduction disease GMS rare disease panel (wet lab).Created: 16 Jan 2019, 2 p.m.
Sources: LiteratureCreated: 16 Jan 2019, 1:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac conduction disease with or without dilated cardiomyopathy 616117
Publications
Eleanor Williams: Sources: Literature
Gene: tnni3k has been classified as Green List (High Evidence).
gene: TNNI3K was added gene: TNNI3K was added to Cardiac arrhythmias. 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