Hypertrophic cardiomyopathy - teen and adult

Gene: TNNI3

Green List (high evidence)

TNNI3 (troponin I3, cardiac type)
EnsemblGeneIds (GRCh38): ENSG00000129991
EnsemblGeneIds (GRCh37): ENSG00000129991
OMIM: 191044, Gene2Phenotype
TNNI3 is in 7 panels

7 reviews

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: MOI was corrected.
Created: 30 Sep 2019, 12:34 p.m. | Last Modified: 30 Sep 2019, 12:34 p.m.
Panel Version: 1.76

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, hypertrophic, 7 (613690 )
Created: 25 Mar 2019, 4:30 p.m.
Sarcomeric HCM genes - well established gene
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

Gene on CGGL Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.
Created: 19 Mar 2019, 5:17 p.m. | Last Modified: 18 Sep 2019, 12:52 p.m.
Panel Version: 1.74

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Ellen McDonagh (Genomics England Curator)

I don't know

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.

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 131 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: 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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 11 Feb 2016, 3:11 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 7
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, hypertrophic, 7 (613690)
OMIM
191044
Clinvar variants
Variants in TNNI3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TNNI3 were set to 27532257; 28369730

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TNNI3. Mode of inheritance for gene TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to TNNI3.

14 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to TNNI3. Mode of inheritance for gene TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI3 was added to Hypertrophic Cardiomyopathypanel. Sources: Eligibility statement prior genetic testing

13 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TNNI3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TNNI3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TNNI3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TNNI3 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services