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| Progressive cardiac conduction disease v1.21 | TNNI3K | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.20 | TNNI3K | Ivone Leong Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.30 | TNNI3K | Ivone Leong reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | TNNI3K | James Eden reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: None; Publications: 25791106, 24925317, 30010057; Phenotypes: Cardiac conduction disease with or without dilated cardiomyopathy 616117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | TNNI3K | Rebecca Whittington changed review comment from: OMIM: cardiac conduction with/without DCM. A number of families reported one patient at 3.5years. HGMD: Four variants missense and one splice. Conduction defects appear to be presenting feature.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | TNNI3K | Rebecca Whittington reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac conduction disease with or without dilated cardiomyopathy 616117; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.3 | TNNI3K | Eleanor Williams Classified gene: TNNI3K as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.3 | TNNI3K | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.3 | TNNI3K | Eleanor Williams Gene: tnni3k has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.2 | TNNI3K |
Eleanor Williams 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 Added comment: 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: Literature |
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