Two de novo frameshift variants and one de novo missense variant in the RALGAPB gene were identified in ASD probands in De Rubeis et al., 2014 and Guo et al., 2018. A de novo nonsense variant in this gene had previously been identified in a patient with epileptic encephalopathy (Epi4K Consortium 2013). An additional de novo likely gene-disruptive variant in the RALGAPB gene was identified in an ASD proband from the SPARK cohort in Feliciano et al., 2019. Three additional de novo loss-of-function variants in the RALGAPB gene were reported in ASD probands from the SPARK cohort in Zhou et al., 2022; a two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in this report identified RALGAPB as a gene reaching study-wide significance based on 5,754 constraint genes (P < 8.69E-06).
Molecular Function
Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
