Congenital muscular dystrophy and congenital myopathy

Gene: PIEZO2

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.

Created: 18 Oct 2019, 1:13 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type3 114300: Arthrogryposis, distal, type5 108145: Arthrogryposis, distal, with proprioception and touch 617146

Publications

• 23487782, 24726473

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

Comment when marking as ready: Appropriate for arthrogryposis panel (green there). Reviewer emailed to ask if they have evidence of myopathy in absence of arthrogryposis as this situation would warrant green status on this panel.

Created: 7 Mar 2017, 4:19 p.m.

Comment on list classification: Arthrogryposis phenotype (green on that panel)

Created: 7 Mar 2017, 4:18 p.m.

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis