15q11.2-q13.1 deletion syndrome (maternal)

Severe intellectual disability, absent speech, seizures (80%), ataxic gait, frequent laughter, and microcephaly. Maternal deletion (~70% of cases). ~1:12,000-20,000.

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)

chr15:23,600,000-28,500,0004.90 Mb15 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

15 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
UBE3Akey fully contained	—	—	—	—	—	Gene OMIM
GABRG3 fully contained	—	—	—	—	—	Gene OMIM
MAGEL2 fully contained	—	—	—	—	—	Gene OMIM
NDN fully contained	—	—	—	—	—	Gene OMIM
GOLGA8F fully contained	—	—	—	—	—	Gene OMIM
HERC2 fully contained	—	—	—	—	—	Gene OMIM
ATP10A fully contained	—	—	—	—	—	Gene OMIM

Input: “Angelman” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38