17q21.31 deletion syndrome

Intellectual disability, friendly/amiable behavior, epilepsy (~50%), distinctive facies with pear-shaped nose, and congenital anomalies. ~1:16,000.

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)

chr17:45,600,000-46,800,0001.20 Mb12 coding genesDeletion

Protein-Coding Genes in Region

12 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
STHkey fully contained	—	—	—	—	—	Gene OMIM
KANSL1key fully contained	—	—	—	—	—	Gene OMIM
MAPTkey fully contained	—	—	—	—	—	Gene OMIM
SPPL2C fully contained	—	—	—	—	—	Gene OMIM
LRRC37A fully contained	—	—	—	—	—	Gene OMIM
LRRC37A2 fully contained	—	—	—	—	—	Gene OMIM
ARL17A fully contained	—	—	—	—	—	Gene OMIM

Input: “Koolen-de Vries” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38