17q12 deletion syndrome

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

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chr17pqDEL17q121.3 Mb36.4M37.7Mp13.3p12p11.2q11.2q22q24.3q25.1

Gene content — colored by haploinsufficiency (pHI)

chr17:36,400,000-37,700,0001.30 Mb0 coding genesDeletion
UCSC DECIPHER gnomAD SV OMIM Unique
Partial errors:
  • ensembl: Error: Ensembl gene overlap fetch failed: Error: Ensembl overlap failed: 500
Input: “17q12 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38