Congenital muscular dystrophy and congenital myopathy

Gene: TNNI2

I don't know

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 Dec 2023, 4:06 p.m. | Last Modified: 26 Dec 2023, 4:06 p.m.

Panel Version: 0.218

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

• 16924011

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.

Green List (high evidence)

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

Phenotypes
Arthrogryposis multiplex congenita, distal, type 2B 601680

Publications

• 16924011
• 16924011

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

Green List (high evidence)

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

Phenotypes
Arthrogryposis multiplex congenita, distal, type 2B 601680

Publications

• 16924011
• 16924011

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

• PMID 16924011
• 16924011