1q21.1 deletion syndrome

Microcephaly, developmental delay, congenital heart defects, cataracts, and schizophrenia susceptibility. Variable penetrance. May include TAR syndrome region (thrombocytopenia-absent radius).

OMIM 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)

chr1:146,500,000-147,959,2691.46 Mb9 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

9 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
GJA8key fully contained	—	—	—	—	—	Gene OMIM
BCL9key fully contained	—	—	—	—	—	Gene OMIM
CHD1Lkey fully contained	—	—	—	—	—	Gene OMIM
GJA5key fully contained	—	—	—	—	—	Gene OMIM
PRKAB2 fully contained	—	—	—	—	—	Gene OMIM
NBPF12 fully contained	—	—	—	—	—	Gene OMIM
FMO5 fully contained	—	—	—	—	—	Gene OMIM

Input: “1q21.1 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38