| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Joubert syndrome and other neurological ciliopathies v0.67 | EVC | Zornitza Stark Marked gene: EVC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.67 | EVC | Zornitza Stark Gene: evc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.67 | EVC | Zornitza Stark Classified gene: EVC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.67 | EVC | Zornitza Stark Gene: evc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.62 | EVC |
Crystle Lee gene: EVC was added gene: EVC was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EVC were set to 23220543 Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome (MIM#225500) Review for gene: EVC was set to AMBER Added comment: Well established ciliopathy gene, primarily with skeletal manifestations and rare reports of cerebellar malformations (Dandy-Walker malformation) Sources: Expert Review |
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