Louise Daugherty Added comment: Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association.
Louise Daugherty edited their review of gene: TRAPPC11: Added comment: Reviewed by Genomics England clinical team who noted the phenotype described in the OMIM cases have significant overlap with those described as 'Congenital muscular dystrophy'. There is a relevant muscular phenotype with onset in infancy / early childhood, a raised CK and dystrophic changes on muscle biopsy. The GLH representative has rated it green so would support green rating based on the evidence. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.; Changed rating: GREEN
Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TRAPPC11 is associated with Muscular dystrophy, limb-girdle, autosomal recessive 18 in OMIM and Gene2Phenotype. There are 2 published cases of unrelated patients with congenital muscular dystrophy who have different variants in TRAPPC11 (PMID: 26322222; 29855340). There are >3 cases of patients with LGMD who have variants in this gene. Clinical input might be required to determine whether this gene should be green on this panel.