ClinGen Dosage Sensitivity Curation Page

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PIK3R2

  • Curation Status: Complete

Location Information

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