1. Name of the disease (synonyms)
16p12.1 microdeletion syndrome (hg18/NCBI36). Updated release of the human reference genome (hg19/GRCh37) annotates this region as 16p12.2.
2. OMIM# of the disease
136570.
3. Name of the analysed genes or DNA/chromosome segments
Chromosome 16p12.2 (hg19 chr16:g.(?_ 21950000)_(22470000_?)del).
4. OMIM# of the gene(s)
UQCRC2 (*191329); EEF2K (*606968); CDR2 (*117340); PDZD9 (no OMIM entry); C16orf52 (no OMIM entry); VWA3A (no OMIM entry); and POLR3E (no OMIM entry).
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the 16p12.2 region in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
- Lucilla Pizzo
- Joris Andrieux
- Santhosh Girirajan
