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Rare multisystem ciliopathy disorders v1.115 POC1B 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.
Rare multisystem ciliopathy disorders v1.115 POC1B Eleanor Williams commented on gene: POC1B: Amber rating confirmed with the Genomics England rare disease clinical team.
Rare multisystem ciliopathy disorders v1.114 POC1B Eleanor Williams Phenotypes for gene: POC1B were changed from Joubert Syndrome and Senior-Loken Syndrome 24 gene panel to Joubert Syndrome; Senior-Loken Syndrome 24 gene panel; Cone-rod dystrophy 20 615973; AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Rare multisystem ciliopathy disorders v1.113 POC1B Eleanor Williams Publications for gene: POC1B were set to
Rare multisystem ciliopathy disorders v1.112 POC1B Eleanor Williams Classified gene: POC1B as Amber List (moderate evidence)
Rare multisystem ciliopathy disorders v1.112 POC1B 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.
Rare multisystem ciliopathy disorders v1.112 POC1B Eleanor Williams Gene: poc1b has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.111 POC1B Eleanor Williams commented on gene: POC1B
Rare multisystem ciliopathy disorders POC1B Zornitza Stark reviewed gene: POC1B
Rare multisystem ciliopathy disorders POC1B Alice Gardham marked POC1B as ready
Rare multisystem ciliopathy disorders POC1B Alice Gardham commented on POC1B