7q11.23 deletion syndrome

Supravalvular aortic stenosis, distinctive facies, intellectual disability with preserved language, hypercalcemia, and characteristic hypersociable personality. ~1:7500-10,000.

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)

chr7:73,100,000-74,900,0001.80 Mb28 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

28 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
LIMK1key fully contained	—	—	—	—	—	Gene OMIM
GTF2Ikey fully contained	—	—	—	—	—	Gene OMIM
ELNkey fully contained	—	—	—	—	—	Gene OMIM
GTF2IRD1key fully contained	—	—	—	—	—	Gene OMIM
DNAJC30 fully contained	—	—	—	—	—	Gene OMIM
CLDN3 fully contained	—	—	—	—	—	Gene OMIM
TMEM270 fully contained	—	—	—	—	—	Gene OMIM

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