2q33.1 deletion syndrome

ID, absent/limited speech, palatal anomalies, feeding difficulties, behavioral issues. SATB2 is the critical gene.

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)

chr2:199,400,000-201,200,0001.80 Mb18 coding genesDeletion

Protein-Coding Genes in Region

18 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
SATB2key - strand	—	—	—	—	—	Gene OMIM
C2orf69 fully contained	—	—	—	—	—	Gene OMIM
MAIP1 fully contained	—	—	—	—	—	Gene OMIM
FTCDNL1 fully contained	—	—	—	—	—	Gene OMIM
SGO2 fully contained	—	—	—	—	—	Gene OMIM
TYW5 fully contained	—	—	—	—	—	Gene OMIM
ORC2 fully contained	—	—	—	—	—	Gene OMIM

Input: “2q33.1 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38