| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ciliopathies v0.162 | PIK3C2A | Zornitza Stark Marked gene: PIK3C2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.162 | PIK3C2A | Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.162 | PIK3C2A | Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.162 | PIK3C2A | Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.161 | PIK3C2A |
Elena Savva gene: PIK3C2A was added gene: PIK3C2A was added to Ciliopathies. Sources: Expert list Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to PMID: 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440 Review for gene: PIK3C2A was set to GREEN Added comment: Function: catalyzes the phosphorylation of the lipids that are essential for a variety of cellular processes including cilia formation and vesicle trafficking. PMID: 31034465 - 3 unrelated families (5 patients) with cataracts, skeletal abnormalities, hearing loss, nephrocalcinosis, visual defects etc. Variants included a nonsense, canonical splice causing a large inframe deletion-insertion and intragenic CNV. MRIs revealed multiple forntal and periventricular lacunar infarcts, lesions of white matter. No mention of MTS or cerebellar atrophy. Functional assays on patents fibroblasts showed reduced accumulation of PI(3)P (a downstream target of this gene) at the base of cilia and reduced cilia length. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||