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| Ciliopathies v0.88 | VPS13B | Zornitza Stark Marked gene: VPS13B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.88 | VPS13B | Zornitza Stark Added comment: Comment when marking as ready: Agree retinopathy, obesity and ID overlap significantly with typical phenotypic features of ciliopathies, therefore reasonable to include in this panel even though not strictly a ciliopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.88 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.88 | VPS13B | Zornitza Stark Classified gene: VPS13B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.88 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.78 | VPS13B |
Crystle Lee gene: VPS13B was added gene: VPS13B was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome (MIM# 216550) Review for gene: VPS13B was set to AMBER Added comment: Well reported to cause Cohen syndrome, however, protein forms part of the golgi apparatus and plays an important role in glycosylation. Unsure if ciliopathy? PanelApp UK: Was confirmed with the Clinical Team that this gene should be green on this panel. Sources: Expert Review |
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