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| Ciliary Dyskinesia v0.83 | PIK3R1 | Zornitza Stark Marked gene: PIK3R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.83 | PIK3R1 | Zornitza Stark Added comment: Comment when marking as ready: Can cause bronchiectasis with limited immunological findings, include as an overlapping phenotype on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.83 | PIK3R1 | Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.83 | PIK3R1 | Zornitza Stark Classified gene: PIK3R1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.83 | PIK3R1 | Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.82 | PIK3R1 | Zornitza Stark Classified gene: PIK3R1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.82 | PIK3R1 | Zornitza Stark Gene: pik3r1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | PIK3R1 |
Elena Savva gene: PIK3R1 was added gene: PIK3R1 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to PMID: 30018075; 31111319 Phenotypes for gene: PIK3R1 were set to ?Agammaglobulinemia 7, autosomal recessive 615214; Immunodeficiency 36 616005; SHORT syndrome 269880 Mode of pathogenicity for gene: PIK3R1 was set to Other Review for gene: PIK3R1 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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