| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Joubert syndrome and other neurological ciliopathies v0.55 | VPS13B | Zornitza Stark Marked gene: VPS13B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.55 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.55 | VPS13B | Zornitza Stark Classified gene: VPS13B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.55 | VPS13B | Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.48 | VPS13B |
Crystle Lee gene: VPS13B was added gene: VPS13B was added to Joubert syndrome and other neurological 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. Amber for this gene panel due to phenotypic overlap although not strictly a cilipoathy. Sources: Expert Review |
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