ClinGen Dosage Sensitivity Curation Page
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PIK3R2
- Curation Status: Complete
- id: ISCA-34567
- Date last evaluated: 2015-06-25
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about PIK3R2 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/5296
- OMIM: https://omim.org/entry/603157
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.94
Select assembly:
(NC_000019.9)
(NC_000019.10)
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Haploinsufficiency phenotype comments:
Variants in PIK3R2 have been reported in individuals with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. To date, all reported variants have been missense variants; the variants are believed to cause disease by a gain-of-function mechanism. See PMIDs 22729224, 23592320, and 23745724 for additional information.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity