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Table 1 Genetic alteration found in the patient and the genes deleted

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

  1. Genes written in bold and underline text are associated with different disorders in the OMIM database