| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Joubert syndrome and other neurological ciliopathies v0.83 | CENPF | Zornitza Stark Marked gene: CENPF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.83 | CENPF | Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.83 | CENPF | Zornitza Stark Classified gene: CENPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.83 | CENPF | Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.62 | CENPF |
Crystle Lee gene: CENPF was added gene: CENPF was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 25564561; 28407396; 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome (MIM#243605) Review for gene: CENPF was set to AMBER Added comment: Stromme syndrome is well reported as a ciliopathy phenotype with some overlapping JS features although does not seem to be consistent between patients. Amber for this panel PMID: 25564561; Waters 2015; 2 families reported. Ciliopathy features such as cerebellar vermis hypoplasia and cleft palate reported in one family. Functional studies performed. PMID: 28407396; Ozkinay 2017; 1 family reported. Brain MRI showed lissecephaly. PMID: 26820108; Filges 2016; 2 families reported. Sources: Expert Review |
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