Congenital muscular dystrophy and congenital myopathy

Gene: VPS33B

I don't know

Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off- do NOT cause neuromuscular forms of arthrgrogryposis

Created: 3 Dec 2019, 3:23 p.m. | Last Modified: 3 Dec 2019, 3:23 p.m.

Panel Version: 1.203

Comment on list classification: Changed from Amber 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, 1:15 p.m. | Last Modified: 18 Oct 2019, 1:19 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis renal dysfunction, and cholestasis 1 208085

Publications

• 15052268, 16896922

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

Comment when marking as ready: Reviewer contacted to see if they have cases of myopathy, without arthrogryposis. If this is the case, it should be green on this panel. Otherwise leave as amber pending further phenotypic evidence, but green on arthrogryposis.

Created: 7 Mar 2017, 4:37 p.m.

Comment on list classification: Arthrogryposis rather than myopathy. Green on arthrogryposis panel.

Created: 7 Mar 2017, 4:35 p.m.

Green List (high evidence)

Phenotypes
vacuolar myopathy?