22q11.2 deletion syndrome

Congenital heart defects, palatal anomalies, immune deficiency, hypocalcemia, learning difficulties. Most common microdeletion syndrome (~1:4000).

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)

chr22:18,912,231-21,461,0172.55 Mb49 coding genesDeletion

Protein-Coding Genes in Region

49 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
TBX1key fully contained	—	—	—	—	—	Gene OMIM
COMTkey fully contained	—	—	—	—	—	Gene OMIM
PRODHkey fully contained	—	—	—	—	—	Gene OMIM
CCDC188 fully contained	—	—	—	—	—	Gene OMIM
RTN4R fully contained	—	—	—	—	—	Gene OMIM
TXNRD2 fully contained	—	—	—	—	—	Gene OMIM
TSSK2 fully contained	—	—	—	—	—	Gene OMIM

Input: “22q11.21 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38