8p23.3-p21.1CNV Type: Deletion
Largest CNV size: 25296256 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
27437365
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
25296256
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
27695471
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_24_ASD/DD/ID_discovery_cases-case861
M
Low weight, elongated face, synophrys and pointed fingers. Father with partial trisomy of chr 8 and monosomy of chr 12 karyotype.
208049
27645413
27437365
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000742
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2475295
27504279
25028985
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case71
NA
F
Intellectual disability
Mild/moderate intellectual disability
241529
27936999
27695471
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
chaves_24_ASD/DD/ID_discovery_cases-case861
Paternal
CHRNA2,NATP,ATP6V1B2,NAT1,ADRA1A,POLR3D,NAT2,BMP1,ANGPT2,ASAH1,CLU,BNIP3L,BLK,EPHX2,FGL1,DEFA5,FDFT1,CLN8,DPYSL2,CTSB,DEFA4,DEFA6,PTK2B,DMTN,DEFA3,DEFA1,DEFB1,EGR3,DEFB4A,ADAMDEC1,FGF20,CNOT7,SLC25A37,SCARA3,ZDHHC2,PINX1,KCTD9,PIWIL2,INTS10,AGPAT5,MTUS1,HR,BIN3,CSGALNACT1,TRMT9B,CCAR2,DEFB103B,PDLIM2,MCPH1,CSMD1,EBF2,MTMR9,NUDT18,FHIP2B,PPP1R3B,SH2D4A,FAM167A,SLC35G5,LINC00529,STMN4,FAM167A-AS1,SOX7,REEP4,DOCK5,LINC00208,FAM86B1,LONRF1,RP1L1,ERI1,CHMP7,VPS37A,CLDN23,SGCZ,DEFB104A,NKX2-6,PPM1AP1,PRSS55,C8orf74,MIR124-1HG,C8orf48,CDCA2,ERICH1,LGI3,TDRP,SDAD1P1,TDH,R3HCC1,ZNF596,FAM87A,PRAG1,PEBP4,DEFT1P,GATA4,GNRH1,GULOP,GFRA2,HSPD1P3,DEFB130A,NEIL2,DEFB105A,DEFB106A,DEFB109A,DEFB107A,MICU3,XKR6,LINC02153,FAM86B3P,PSME2P5,USP17L2,OR7E8P,PRSS51,MRPL49P2,OR7E125P,OR7E161P,FAM90A6P,FAM90A3P,TNFRSF10A-DT,FAM90A25P,ZNF705CP,USP17L8,USP17L7,RPL19P13,RPL23AP96,XKR5,FAM90A15P,OR7E158P,OR6R2P,OR7E96P,OR7E157P,DEFB103A,MIR320A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,C8orf58,DEFA9P,DEFB108D,DEFB108C,FAM90A21P,DEFA10P,MIR383,DEFB107B,DEFB135,DEFB134,DEFB109D,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,DEFB136,DEFB108E,CCT3P1,USP17L3,RPL10P19,FAM90A12P,RPL32P19,HSPD1P2,ADAM24P,USP17L4,RPL23AP53,SINHCAFP3,MIR598,DEFA11P,MIR596,MIR597,DEFA7P,FAM86B2,SUB1P1,ZNF705D,TMEM97P2,SPAG11A,DEFA1B,FAM90A20P,BTF3P3,PAICSP4,FAM90A2P,DEFB131C,FAM66B,TDH-AS1,NEFM,NKX3-1,LOXL2,NEFL,MSR1,MSRA,LPL,EIF4EP5,PRR23D1,ZNF705G,PRR23D2,FAM66E,DEFB130B,FAM66D,FAM66A,ZNF705B,RPL30P9,RPL35P6,DEFB109C,RPS3AP35,DEFB131D,RPL23AP55,RPS3AP30,RPL23AP54,DNAJB6P2,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP34,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,MIR548H4,ENPP7P1,ALG1L12P,MIR3926-1,MIR3926-2,MIR4286,MIR548V,MIR3674,COX6B1P4,MCPH1-AS1,PIWIL2-DT,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,MTND4P7,RNA5SP255,MIR5692A2,RNA5SP256,RNA5SP258,RNA5SP257,RNA5SP251,LZTS1-AS1,LINC00681,CLN8-AS1,KBTBD11-AS1,PCM1,PDGFRL,PPP3CC,PPP2R2A,RNU7-55P,PINX1-DT,PRR23D3P,MIR6841,MIR6842,MIR8055,MTUS1-DT,MIR6876,MIR6843,MIR7160,KBTBD11-OT1,MSRA-DT,RNU7-153P,ALG1L13P,RN7SL178P,FAM85B,STC1,SFTPC,SLC7A2,SLC18A1,ENPP7P12,RNU6-1084P,RNU6-682P,RNU6-397P,RNU6-336P,RN7SL303P,RNU6-729P,RNA5SP253,RN7SKP159,RN7SL474P,RNU6-526P,ALG1L11P,RN7SL318P,RNU4-71P,SNRPCP17,RNA5SP254,RNU6-842P,RNU1-148P,RNU6-1151P,MTND4LP26,RN7SL293P,RNU6-892P,ENPP7P6,DEFB131E,TNFRSF10A-AS1,TNFRSF10A,ADAM7,TNFRSF10D,TNFRSF10B,TNFRSF10C,TNKS,OR7E15P,TUSC3,FGF17,ENTPD4-DT,HRURF,MTMR7,MYOM2,ARHGEF10,PHYHIP,SORBS3,DLGAP2,DOK2,MFHAS1,ENTPD4,KBTBD11,NPM2,LZTS1,SPAG11B,DLC1,OR7E10P,PNMA2,ADAM28,RHOBTB2,PSD3,FBXO25,XPO7,TRIM35,SLC39A14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000742
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,CSMD1,FAM66B,PRSS51,BLK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B
streata_22_ASD/DD/ID_discovery_cases-case71
Unknown
CHRNA2,NATP,ATP6V1B2,NAT1,ADRA1A,POLR3D,NAT2,BMP1,ANGPT2,ASAH1,CLU,BNIP3L,BLK,EPHX2,FGL1,DEFA5,FDFT1,CLN8,DPYSL2,CTSB,DEFA4,DEFA6,PTK2B,DMTN,DEFA3,DEFA1,DEFB1,EGR3,DEFB4A,ADAMDEC1,FGF20,CNOT7,SLC25A37,SCARA3,ZDHHC2,PINX1,KCTD9,PIWIL2,INTS10,AGPAT5,CCDC25,MTUS1,PBK,HR,BIN3,CSGALNACT1,TRMT9B,CCAR2,DEFB103B,PDLIM2,MCPH1,CSMD1,EBF2,MTMR9,NUDT18,FHIP2B,PPP1R3B,SH2D4A,FAM167A,SLC35G5,LINC00529,STMN4,FAM167A-AS1,SOX7,REEP4,DOCK5,LINC00208,FAM86B1,LONRF1,RP1L1,ERI1,CHMP7,VPS37A,CLDN23,SGCZ,DEFB104A,NKX2-6,PPM1AP1,PRSS55,C8orf74,MIR124-1HG,C8orf48,CDCA2,ERICH1,LGI3,TDRP,SDAD1P1,TDH,R3HCC1,ZNF596,FAM87A,PRAG1,PEBP4,DEFT1P,ESCO2,GATA4,GNRH1,GULOP,GFRA2,HSPD1P3,DEFB130A,NEIL2,DEFB105A,DEFB106A,DEFB109A,DEFB107A,MICU3,SCARA5,XKR6,LINC02153,FAM86B3P,PSME2P5,USP17L2,OR7E8P,PRSS51,MRPL49P2,OR7E125P,OR7E161P,FAM90A6P,FAM90A3P,TNFRSF10A-DT,FAM90A25P,ZNF705CP,USP17L8,USP17L7,RPL19P13,RPL23AP96,XKR5,FAM90A15P,OR7E158P,OR6R2P,OR7E96P,OR7E157P,DEFB103A,MIR320A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,C8orf58,DEFA9P,DEFB108D,DEFB108C,FAM90A21P,DEFA10P,MIR383,DEFB107B,DEFB135,DEFB134,DEFB109D,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,DEFB136,DEFB108E,CCT3P1,USP17L3,RPL10P19,FAM90A12P,RPL32P19,HSPD1P2,ADAM24P,USP17L4,SINHCAFP3,MIR598,DEFA11P,MIR596,MIR597,DEFA7P,FAM86B2,SUB1P1,ZNF705D,TMEM97P2,SPAG11A,DEFA1B,FAM90A20P,BTF3P3,PAICSP4,FAM90A2P,DEFB131C,FAM66B,TDH-AS1,NEFM,NKX3-1,LOXL2,NEFL,MSR1,MSRA,LPL,EIF4EP5,PRR23D1,ZNF705G,PRR23D2,FAM66E,DEFB130B,FAM66D,FAM66A,ZNF705B,RPL30P9,RPL35P6,DEFB109C,RPS3AP35,DEFB131D,RPL23AP55,RPS3AP30,RPL23AP54,DNAJB6P2,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP34,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,MIR548H4,ENPP7P1,ALG1L12P,MIR3622A,MIR4287,MIR3926-1,MIR3926-2,MIR4286,MIR548V,MIR3674,COX6B1P4,MIR3622B,MCPH1-AS1,PIWIL2-DT,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,MTND4P7,RNA5SP255,MIR5692A2,RNA5SP256,RNA5SP258,RNA5SP257,RNA5SP251,LZTS1-AS1,LINC00681,CLN8-AS1,KBTBD11-AS1,PCM1,PDGFRL,PPP3CC,PPP2R2A,RNU7-55P,PINX1-DT,PRR23D3P,MIR6841,MIR6842,MIR8055,MTUS1-DT,MIR6876,MIR6843,MIR7160,KBTBD11-OT1,MSRA-DT,RNU7-153P,ALG1L13P,RN7SL178P,FAM85B,STC1,SFTPC,SLC7A2,SLC18A1,ENPP7P12,RNU6-1084P,RNU6-682P,RNU6-397P,RNU6-336P,RN7SL303P,RNU6-729P,RNA5SP253,RN7SKP159,RN7SL474P,RNU6-526P,ALG1L11P,RN7SL318P,RNU4-71P,SNRPCP17,RNU6-1086P,RNA5SP254,RNU6-842P,RNU1-148P,RNU6-1151P,MTND4LP26,RN7SL293P,RNU6-892P,RNU6-1276P,ENPP7P6,DEFB131E,TNFRSF10A-AS1,TNFRSF10A,ADAM7,TNFRSF10D,TNFRSF10B,TNFRSF10C,TNKS,OR7E15P,TUSC3,FGF17,ENTPD4-DT,HRURF,MTMR7,MYOM2,ARHGEF10,PHYHIP,SORBS3,DLGAP2,DOK2,MFHAS1,ENTPD4,KBTBD11,NPM2,LZTS1,SPAG11B,DLC1,OR7E10P,PNMA2,ADAM28,RHOBTB2,PSD3,FBXO25,XPO7,TRIM35,SLC39A14
Controls
No Control Data Available
No Animal Model Data Available