15q13.3 deletion syndrome

Intellectual disability, epilepsy (variable generalized epilepsies and photoparoxysmal response), ASD, and schizophrenia risk. CHRNA7 haploinsufficiency is the critical driver. Incomplete penetrance.

OMIM GeneReviews 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)

chr15:30,900,000-32,500,0001.60 Mb8 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

8 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
OTUD7Akey fully contained	—	—	—	—	—	Gene OMIM
CHRNA7key fully contained	—	—	—	—	—	Gene OMIM
FAN1key + strand	—	—	—	—	—	Gene OMIM
GOLGA8O fully contained	—	—	—	—	—	Gene OMIM
GOLGA8K fully contained	—	—	—	—	—	Gene OMIM
TRPM1 fully contained	—	—	—	—	—	Gene OMIM
KLF13 fully contained	—	—	—	—	—	Gene OMIM

Input: “15q13.3 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38