Congenital myopathy
Gene: TNNI2
As agreed with GMS Neurology specialist test group and summarised by Louise Daugherty (Genomics England Curator), the rating will remain as green in this panel.Created: 26 Apr 2023, 9:57 a.m. | Last Modified: 26 Apr 2023, 9:57 a.m.
Panel Version: 4.26
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
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.
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
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
Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B1, OMIM:601680
Gene: tnni2 has been classified as Green List (High Evidence).
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
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
Publications for gene: TNNI2 were set to 16924011; 16924011
Source NHS GMS was added to TNNI2.
Source London South GLH was added to TNNI2.
This gene has been classified as Red List (Low Evidence).
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Publications for TNNI2 were set to 16924011; 16924011
Mode of inheritance for TNNI2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TNNI2 was added to Congenital myopathypanel. Sources: Expert
TNNI2 was added to Congenital myopathypanel. Sources: UKGTN