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| Ciliary Dyskinesia v0.84 | PIK3CD | Zornitza Stark Marked gene: PIK3CD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.84 | PIK3CD | Zornitza Stark Added comment: Comment when marking as ready: Include as overlapping phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.84 | PIK3CD | Zornitza Stark Gene: pik3cd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.84 | PIK3CD | Zornitza Stark Classified gene: PIK3CD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.84 | PIK3CD | Zornitza Stark Gene: pik3cd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | PIK3CD |
Elena Savva gene: PIK3CD was added gene: PIK3CD was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3CD were set to PMID: 30018075; 31111319 Phenotypes for gene: PIK3CD were set to Immunodeficiency 14 615513 Mode of pathogenicity for gene: PIK3CD was set to Other Review for gene: PIK3CD was set to AMBER Added comment: PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway PMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature No other phenotypes reports reminiscent of PCD Sources: Expert list |
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