17p13.3-q11.1CNV Type: Duplication
Largest CNV size: 22148794 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication within this region were identified as part of a study of patients with genomic rearrangements that duplicated the RAI1 and PMP22 genes; while detailed clinical information for the patient with this duplication was not available, patients with similar duplications typically presented with developmental delay and related phenotypes including behavioral difficulties (Yuan et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
yuan_15_DD_discovery_cases
Subjects with genomic rearrangements that simultaneously duplicate PMP22 and RAI1 from an initial cohort of 127 subjects with proximal 17p duplications encompassing RAI1
23
Clinical records of 17/23 subjects were available for review; most consistently reported clinical features were feeding difficulties, global developmental delay, behavioral difficulties, and language delay.
N/A
N/A
22148794
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
yuan_15_DD_discovery_cases-caseBAB6967
N/A
N/A
N/A
Detailed clinical information for this patient not available. Case CNV pattern: complex genomic rearrangment (deletion-normal-copy segment-duplication).
3239722
26964783
23725062
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
yuan_15_DD_discovery_cases-caseBAB6967
Unknown
OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,TAX1BP3,EMC6,HASPIN,RNA5SP434,RYKP1,MFSD1P1,RN7SL774P,GGT6,TXNP4,LINC01996,RNU6-955P,MED11,ZMYND15,TM4SF5,VMO1,GLTPD2,PSMB6,ATP6V0CP1,RN7SL784P,C17orf107,GP1BA,SLC25A11,RNF167,ENO3,MIR6864,MIR6865,ZNF594,RNU6-1264P,BTF3P14,PIMREG,RNA5SP435,TXNDC17,MED31,MIR4520-1,MIR4520-2,RPL23AP73,PRAL,ALOX12,RNASEK,RNASEK-C17orf49,C17orf49,MIR497HG,MIR195,MIR497,SLC16A13,SLC16A11,RPL7AP64,ACADVL,MIR324,PHF23,CTDNEP1,CLDN7,SLC2A4,GPS2,KCTD11,PLSCR3,TMEM256-PLSCR3,TMEM256,SPEM1,SPEM2,SPEM3,TMEM102,SLC35G6,TNFSF13,EIF4A1,SNORA48,SNORD10,SNORA67,CD68,SOX15,SAT2,EFNB3,RPL29P2,TMEM88,CYB5D1,SCARNA21,KCNAB3,TRAPPC1,MIR4314,HES7,MIR6883,SNORD118,MIR4521,BORCS6,LINC00324,RANGRF,ARHGEF15,ODF4,RPL26,RNF222,RNU7-43P,PPIAP52,SPDYE4,RPL19P18,NPM1P45,RCVRN,RPS27AP1,MAGOH2P,RNU6-1065P,RPL15P21,RNU11-2P,MIR744,MIR1269B,MIR548H3,CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,FTLP13,FAM27E5,MTCYBP13,MTRNR2L1,MTND1P15,MTND2P13,NMTRS-TGA3-1,MTATP6P3,MTCO3P13,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,P2RX5,NCBP3,CAMKK1,P2RX1,LINC01975,CYB5D2,SPNS2,MYBBP1A,ALOX15,PELP1,CXCL16,PLD2,CHRNE,PFN1,SPAG7,INCA1,KIF1C,SLC52A1,ZFP3,USP6,SCIMP,RPAIN,C1QBP,DHX33,DERL2,MIS12,WSCD1,KIAA0753,SLC13A5,XAF1,FBXO39,BCL6B,ASGR2,ASGR1,DVL2,GABARAP,ELP5,YBX2,EIF5A,NEURL4,TMEM95,TNK1,NLGN2,FGF11,CHRNB1,POLR2A,TNFSF12,TNFSF12-TNFSF13,SENP3,SENP3-EIF4A1,MPDU1,SHBG,ATP1B2,TP53,WRAP53,KDM6B,CHD3,RNF227,CNTROB,GUCY2D,ALOX15B,ALOX12B,ALOXE3,PER1,VAMP2,TMEM107,AURKB,CTC1,SLC25A35,KRBA2,NDEL1,CCDC42,MFSD6L,PIK3R6,CFAP52,DHRS7C,GSG1L2,MYH8,MYH4,MYH1,MYH2,MYH3,SCO1,ADPRM,TMEM220,TMEM238L,PIRT,RN7SL601P,ZNF18,ELAC2,LINC02093,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,LINC02002,TRPV3,P2RX5-TAX1BP3,ITGAE,ATP2A3,ZZEF1,UBE2G1,SPNS3,SMTNL2,ARRB2,MINK1,CAMTA2,ZNF232,RABEP1,NUP88,NLRP1,AIPL1,PITPNM3,C17orf100,ALOX15P1,TEKT1,ALOX12P2,ALOX12-AS1,CLEC10A,DLG4,ZBTB4,FXR2,DNAH2,NAA38,PFAS,MYH10,PIK3R5,NTN1,USP43,GLP2R,GAS7,MYH13,TMEM220-AS1,DNAH9,MAP2K4,MYOCD,ARHGAP44,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,FLJ36000,ANKFY1,ACAP1,STX8,MYHAS,SHISA6,LINC00670,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
Controls
No Control Data Available
No Animal Model Data Available