From: 2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report
ISCN 2016 formula | Type | Zygosity | Size (Mb) | OMIM genes in the region | CNV classification |
---|---|---|---|---|---|
arr[GRCh37] 2q37.2q37.3(236869919_ 242782258) × 1 | Loss | heterozygous | 5.912 | AGAP1, GBX2, ACKR3, COPS8, COL6A3, MLPH, PRLH, RAB17, LRRFIP1, RAMP1, UBE2F, SCLY, ERFE, ILKAP, HES6, PER2, TRAF3IP1, ASB1, TWIST2, HDAC4, NDUFA10, COPS9, OTOS, GPC1, MIR149, RNPEPL1, CAPN10, GPR35, AQP12A, KIF1A, AGXT, SNED1, MTERF4, PASK, PPP1R7, ANO7, HDLBP, SEPTIN2, FARP2, STK25, BOK, THAP4, ATG4B, DTYMK, ING5, D2HGDH, GAL3ST2, NEU4 | Pathogenic |