Congenital muscular dystrophy and congenital myopathy

Gene: MYBPC1

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, 1:12 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, type 1B 614335; Lethal congenital contracture syndrome 4 614915

Publications

• 20045868

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

Green List (high evidence)

variants in this gene were found in patients tested in Viapath/100K.

this gene causes "myopathic" forms of AMC and therefore it would be appropriate to keep these genes in a myopathy panel. perhaps it might be possible to create a subpanel for diff forms (neurogenic, myopathic, CMS?) of AMC.

Created: 30 May 2019, 5:08 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915

Publications

• 20045868

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

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, 2:42 p.m.

Comment when marking as ready: Arthrogryposis presentation, not weakness

Created: 3 Feb 2017, 12:17 p.m.

Myopathy is not a reported feature. Phenotypes are consistent with arthrogryposis (already on panel)

Created: 31 Jan 2017, 10:27 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915

Publications

• PMID 20045868