17p11.2 deletion syndrome

Intellectual disability, sleep disturbance with inverted melatonin rhythm, self-injurious behavior, and distinctive facies. ~1:15,000-25,000.

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)

chr17:16,700,000-20,200,0003.50 Mb48 coding genesDeletion

Protein-Coding Genes in Region

48 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
COPS3key fully contained	—	—	—	—	—	Gene OMIM
RAI1key fully contained	—	—	—	—	—	Gene OMIM
FLCNkey fully contained	—	—	—	—	—	Gene OMIM
FBXW10 fully contained	—	—	—	—	—	Gene OMIM
TNFRSF13B fully contained	—	—	—	—	—	Gene OMIM
PLD6 fully contained	—	—	—	—	—	Gene OMIM
MED9 fully contained	—	—	—	—	—	Gene OMIM

Input: “Smith-Magenis” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38