3q29 deletion syndrome

Intellectual disability, ASD, psychosis/schizophrenia risk (40-fold increased), gait ataxia, and mild facial dysmorphism. ~1:30,000. High psychiatric penetrance.

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

pHI ≥ 0.86 ≥ 0.5 ≥ 0.2 < 0.2 / n/a key gene

Gene content — colored by haploinsufficiency (pHI)

chr3:195,700,000-197,300,0001.60 Mb25 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

25 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
FBXO45key fully contained	—	—	—	—	—	Gene OMIM
DLG1key fully contained	—	—	—	—	—	Gene OMIM
PAK2key fully contained	—	—	—	—	—	Gene OMIM
RNF168 fully contained	—	—	—	—	—	Gene OMIM
PIGX fully contained	—	—	—	—	—	Gene OMIM
NCBP2 fully contained	—	—	—	—	—	Gene OMIM
NCBP2AS2 fully contained	—	—	—	—	—	Gene OMIM

Input: “3q29 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38