Congenital myopathy

Gene: TNNI2

Green List (high evidence)

TNNI2 (troponin I2, fast skeletal type)
EnsemblGeneIds (GRCh38): ENSG00000130598
EnsemblGeneIds (GRCh37): ENSG00000130598
OMIM: 191043, Gene2Phenotype
TNNI2 is in 5 panels

5 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Agree with original assessment, only one family reported with myopathic changes, evidence for primary muscle disease is therefore limited.
Created: 15 Jun 2020, 10:14 a.m. | Last Modified: 15 Jun 2020, 10:14 a.m.
Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel.
Created: 18 Oct 2019, 1:14 p.m. | Last Modified: 18 Oct 2019, 1:14 p.m.
Panel Version: 1.187
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arthrogryposis multiplex congenita, distal, type 2B 601680

Publications

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

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arthrogryposis multiplex congenita, distal, type 2B 601680

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: In view of expert opinion as green, further opinion sought. Arianna Tucci, Genomics England curator agrees that the phenotype is of arthrogryposis and therefore best placed on that panel. Expert contacted to ask if they have evidence of myopathy without arthrogryposis in this gene as this would require green status on this panel.
Created: 7 Mar 2017, 2:43 p.m.
Comment when marking as ready: Phenotype is of congenital contractures. The above PMID papers do not mention the presence of muscle weakness or states it was absent in their case. Therefore this gene is more appropriate for arthrogryposis panel than congenital myopathy.
Created: 3 Feb 2017, 2:05 p.m.
Phenotype is of congenital contractures. The above PMID papers do not mention the presence of muscle weakness or state it was absent in their case. Therefore this gene is more appropriate for arthrogryposis panel than congenital myopathy.
Created: 31 Jan 2017, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arthrogryposis multiplex congenita, distal, type 2B 601680

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Expert
  • UKGTN
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B, 601680
OMIM
191043
Clinvar variants
Variants in TNNI2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tnni2 has been classified as Green List (High Evidence).

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959 to Arthrogryposis multiplex congenita, distal, type 2B, 601680

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B 601680 to Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TNNI2 were set to 16924011; 16924011

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TNNI2.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to TNNI2.

7 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for TNNI2 were set to 16924011; 16924011

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for TNNI2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TNNI2 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TNNI2 was added to Congenital myopathypanel. Sources: UKGTN