Dilated Cardiomyopathy and conduction defects
Gene: TNNI3
?Cardiomyopathy, dilated, 2A OMIM#611880; Cardiomyopathy, dilated, 1FF OMIM#613286; Cardiomyopathy, familial restrictive, 1 OMIM#115210;Cardiomyopathy, hypertrophic, 7 OMIM#613690Created: 25 Mar 2019, 4:30 p.m.
HGMD: 8/14 variants assoc with DCM are DM. Including functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - variants only detected in paediatric cases.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 131 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, definitive association with hypertrophic cardiomyopathy 7 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210); Cardiomyopathy, hypertrophic, 7 (613690)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:23 p.m.
Comment on mode of inheritance: Evidence for both AR and AD on OMIMCreated: 14 Feb 2016, 4:23 p.m.
Source South West GLH was added to TNNI3.
Source London South GLH was added to TNNI3.
Source North West GLH was added to TNNI3. Added phenotypes Cardiomyopathy, hypertrophic, 7 (613690); ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210) for gene: TNNI3 Publications for gene TNNI3 were changed from to 27532257; 20186049 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TNNI3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene TNNI3 was changed to BIALLELIC, autosomal or pseudoautosomal
TNNI3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene TNNI3 was changed to BIALLELIC, autosomal or pseudoautosomal
TNNI3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene TNNI3 was changed to BIALLELIC, autosomal or pseudoautosomal
TNNI3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
Model of inheritance for gene TNNI3 was changed to BIALLELIC, autosomal or pseudoautosomal
TNNI3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN
TNNI3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list,UKGTN