Jacobsen syndrome

ID, thrombocytopenia (Paris-Trousseau), congenital heart defects, characteristic facies, growth retardation. Terminal deletion ~1:100,000.

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)

chr11:110,000,000-135,086,62225.09 Mb229 coding genesDeletion

Protein-Coding Genes in Region

229 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
BSXkey fully contained	—	—	—	—	—	Gene OMIM
ETS1key fully contained	—	—	—	—	—	Gene OMIM
FLI1key fully contained	—	—	—	—	—	Gene OMIM
HSPB2-C11orf52 fully contained	—	—	—	—	—	Gene OMIM
C11orf52 fully contained	—	—	—	—	—	Gene OMIM
TIMM8B fully contained	—	—	—	—	—	Gene OMIM
PLET1 fully contained	—	—	—	—	—	Gene OMIM

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