Louise Daugherty changed review comment from: 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.; to: 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.
Louise Daugherty Added comment: 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.
Anna Sarkozy edited their review of gene: ECEL1: Added comment: note that we have now identified at least 6 urelated families with ECEL1 gene mutations. patients present a variable degree of contractural phenotype, some with more severe Arhtrogryposis but still in keeping with a diagnosis of congenital myopathy. thus we would strongly recommend for this gene to be considered in the Cong Myopathy panel.; Changed publications: 30131190; Set current diagnostic: yes
Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Arthrogryposis, distal, type 5D 615065
Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482