Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Classified gene: ROBO3 as Red List (low evidence)
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel.
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Gene: robo3 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.388 ROBO3 Anna de Burca reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313; Mode of inheritance:
Mitochondrial disorders v1.384 ROBO3 Carl Fratter reviewed gene: ROBO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313; Mode of inheritance:
Mitochondrial disorders ROBO3 Louise Daugherty classified ROBO3 as green
Mitochondrial disorders ROBO3 Louise Daugherty added ROBO3 to panel
Mitochondrial disorders ROBO3 Louise Daugherty reviewed ROBO3