Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Natalie B TanAlistair T PagnamentaMatteo P FerlaJonathan GadianBrian Hon-Yin ChungMarcus Cy ChanJasmine Lf FungEdwin CookStephen GuterFelix BoschannAndre HeinenJens SchallnerCyril MignotBoris KerenSandra WhalenCatherine SarretDana MittagLaurie DemmerRachel StapletonKen SaidaNaomichi MatsumotoNoriko MiyakeRuth ShefferHagar Mor-ShakedChristopher P BarnettAlicia B ByrneHamish S ScottAlison KrausGerarda CappuccioNicola Brunetti-PierriRaffaele IorioFabiola Di DatoLynn S PaisAlison YeungTiong Yang TanJenny C TaylorJohn ChristodoulouSusan M WhitePublished in: Journal of medical genetics (2021)
Missense variants in GNB2 cause a congenital neurodevelopmental disorder with variable syndromic features, broadening the spectrum of multisystem phenotypes associated with variants in genes encoding G-proteins.