Eleanor Williams commented on gene: COL11A1: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it was decided to keep this gene red as it is associated with Stickler syndrome which is covered by other panels.
Eleanor Williams Phenotypes for gene: COL11A1 were changed from Disproportionate Short Stature to Disproportionate Short Stature; ibrochondrogenesis 1228520; Stickler syndrome, type II 604841; Marshall Syndrome 154780
Duncan Baker edited their review of gene: COL11A1: Added comment: Following discussion with Dr Balasubramanian - rate green; Changed phenotypes: ibrochondrogenesis 1228520, Stickler syndrome, type II 604841; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal