Congenital muscular dystrophy and congenital myopathy

Gene: TNNT3

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. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.

Created: 18 Oct 2019, 1:17 p.m. | Last Modified: 18 Oct 2019, 1:18 p.m.

Panel Version: 1.191

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
Arthyrogryposis, distal, type 2B 601680

Publications

• 12865991, 17194691

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
Arthyrogryposis, distal, type 2B 601680

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: No clear myopathic phenotype. Presents with contractures and therefore more appropriate for arthrogryposis panel.

Created: 3 Feb 2017, 2:07 p.m.

No clear myopathic phenotype. Presents with contractures and therefore more appropriate for arthrogryposis panel.

Created: 31 Jan 2017, 3:35 p.m.

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

Phenotypes
Arthyrgryposis, distal, type 2B 601680