16p11.2 deletion syndrome

ASD (15-25%), macrocephaly, obesity, intellectual disability (variable), seizures, and language delay. ~1:3000 in ASD cohorts. Incomplete penetrance.

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)

chr16:29,600,000-30,200,000600.0 kb30 coding genesDeletion

Protein-Coding Genes in Region

30 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
PRRT2key fully contained	—	—	—	—	—	Gene OMIM
TBX6key fully contained	—	—	—	—	—	Gene OMIM
SEZ6L2key fully contained	—	—	—	—	—	Gene OMIM
MAPK3key fully contained	—	—	—	—	—	Gene OMIM
KCTD13key fully contained	—	—	—	—	—	Gene OMIM
GDPD3 fully contained	—	—	—	—	—	Gene OMIM
ALDOA fully contained	—	—	—	—	—	Gene OMIM

Input: “16p11.2 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38