Eleanor Williams changed review comment from: Amber rating confirmed with the Genomics England rare disease clinical team.; to: Amber rating confirmed with the Genomics England rare disease clinical team. This appears to be a single organ presentation of a disorder affecting cilia. It is appropriately green on the retinal disorders panel.
Eleanor Williams Added comment: Comment on list classification: Multiple cases of a single feature (retinal dystrophy) disease, only one case plus disease model for multisystem ciliopathy. Rating Amber.