15q11-q13 duplication syndrome

Autism spectrum disorder (most common cytogenetic cause of ASD), hypotonia, epilepsy (often drug-resistant), intellectual disability. Interstitial dup milder than idic(15).

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

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

Gene content — colored by triplosensitivity (pTS)

chr15:23,500,000-28,500,0005.00 Mb15 coding genesDuplication

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

15 genes · sorted by triplosensitivity (pTS)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
GABRG3key fully contained	—	—	—	—	—	Gene OMIM
GABRB3key fully contained	—	—	—	—	—	Gene OMIM
GABRA5key fully contained	—	—	—	—	—	Gene OMIM
UBE3Akey fully contained	—	—	—	—	—	Gene OMIM
MAGEL2 fully contained	—	—	—	—	—	Gene OMIM
NDN fully contained	—	—	—	—	—	Gene OMIM
MKRN3 fully contained	—	—	—	—	—	Gene OMIM

Input: “dup15q” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38