17q12 deletion syndrome

Renal cystic disease (MODY5/RCAD), intellectual disability, ASD, schizophrenia, and epilepsy. HNF1B haploinsufficiency causes renal/MODY phenotype. Neurobehavioral features increasingly recognized.

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)

chr17:36,400,000-37,700,0001.30 Mb16 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

16 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
ACACAkey fully contained	—	—	—	—	—	Gene OMIM
LHX1key fully contained	—	—	—	—	—	Gene OMIM
HNF1Bkey - strand	—	—	—	—	—	Gene OMIM
TBC1D3F fully contained	—	—	—	—	—	Gene OMIM
C17orf78 fully contained	—	—	—	—	—	Gene OMIM
ZNHIT3 fully contained	—	—	—	—	—	Gene OMIM
PIGW fully contained	—	—	—	—	—	Gene OMIM

Input: “17q12 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38