See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.
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.