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Name of the disease (synonyms):

15q13.3 microdeletion syndrome/ Del(15)(q13.3)/ 15q13.3 monosomy syndrome.

OMIM# of the disease:

612001.

Name of the analysed genes or DNA/chromosome segments:

15q13.2q13.3, RefSeq NC_000015.9 (hg19 human reference sequence, February 2009, build 37).

OMIM# of the gene(s):

Putative candidate genes: CHRNA7, 118511; KLF13, 605328; TRPM1, 603576; FAN1, 613534. Other genes in the critical deleted region (BP4-BP5): MTMR10, not applicable; MIR211, 613753; OTUD7A, 612024.

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for microdeletions at the 15q13.3 locus in diagnostic and prenatal settings and for risk assessment in relatives.

Name of the Disease (Synonyms):

16p13.11 microdeletion syndrome/ Del(16)(p13.11)/ 16p13.11 monosomy syndrome.

OMIM# of the Disease:

Not applicable.

Name of the Analysed Genes or DNA/Chromosome Segments:

16p13.11-p12.3: chr16:14.66-18.70 Mb, RefSeq NC_000016.9 (hg19 human reference sequence, February 2009, build 37).

OMIM# of the Gene(s):

Putative candidate genes: NDE1, 609449; NTAN1, not applicable.

Other genes in the critical deleted region (chr16: 15.48-16.32 Mb, GRCh37/hg19): MPV17L, not applicable; C16orf45, not applicable; KIAA0430, 614593; MYH11, 160745; FOPNL, not applicable; ABCC1, 158343; ABCC6, 603234.

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for microdeletions at the 16p13.11 locus in diagnostic and prenatal settings and for risk assessment in relatives.