Clinical utility gene card for: 15q13.3 microdeletion syndrome

摘要

1. Name of the disease (synonyms) ql3.3 microdeletion syndrome/ Del(15)(ql3.3)/ 15ql3.3 monosomy syndrome. 2. OMIM# of the disease 612001.3. Name of the analysed genes or DNA/chromosome segments 15ql3.2ql3.3, RefSeq NC_000015.9 (hgl9 human reference sequence, February 2009, build 37). 4. OMIM# of the gene(s) Putative candidate genes: CHRNA7, 118511; KLF13, 605328; TKPM1, 603576; FAN1, 613534. Other genes in the critical deleted region (BP4-BP5): MTMR10, not applicable; MIR211, 613753; OTUD7A, 612024.