15q11.2 deletion syndrome (BP1-BP2)

Susceptibility locus for developmental delay, speech/language delay, ASD, and epilepsy. Low penetrance (~10-20%); common in general population (~0.5%).

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)

chr15:22,800,000-23,100,000300.0 kb4 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

4 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
NIPA2key fully contained	—	—	—	—	—	Gene OMIM
CYFIP1key fully contained	—	—	—	—	—	Gene OMIM
TUBGCP5key fully contained	—	—	—	—	—	Gene OMIM
NIPA1key + strand	—	—	—	—	—	Gene OMIM

Input: “15q11.2 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38