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

Neonatal hypotonia, hypogonadism, hyperphagia with obesity onset in childhood, intellectual disability, and behavioral problems. Paternal deletion (~70% of cases). ~1:10,000-25,000.

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
MAGEL2key fully contained	—	—	—	—	—	Gene OMIM
NDNkey fully contained	—	—	—	—	—	Gene OMIM
SNRPNkey fully contained	—	—	—	—	—	Gene OMIM
MKRN3key + strand	—	—	—	—	—	Gene OMIM
GABRG3 fully contained	—	—	—	—	—	Gene OMIM
GOLGA8F fully contained	—	—	—	—	—	Gene OMIM
HERC2 fully contained	—	—	—	—	—	Gene OMIM

Input: “Prader-Willi” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38