10q26.12-q26.3CNV Type: Deletion
Largest CNV size: 13080236 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
13600000
1
0
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
13080236
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
Control
N/A
N/A
0
0
0
0
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
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
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
egle_16_DD/ID_discovery_cases-case8_1
13 yrs.
F
Intellectual disability
Short stature, microcephaly, minor facial anomalies, transversal palmar crease
Intellectual disability
120179171
133787422
13608252
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001054
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
120454430
133620674
13166245
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egle_16_DD/ID_discovery_cases-case8_1
FISH or RT-PCR
Maternal
RPL21P16,LINC01561,RPL19P16,LINC01153,RN7SKP167,RPS15AP5,RNU6-728P,MIR3941,ARMS2,HMX3,HMX2,RPS26P39,YBX2P1,NKX1-2,RPS10P18,FAM53B-AS1,NPM1P31,MIR4296,MRPS21P6,RPS27P18,TEX36-AS1,ALDOAP2,MMP21,MIR4484,RNU2-42P,GNG10P1,FANK1-AS1,RNA5SP328,SAR1AP2,FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,FRG2B,RARRES2P2,AGGF1P2,CLUHP5,DUX4L28,DUX4L25,DUX4L24,DUX4L23,DUX4L22,DUX4L21,DUX4L20,DUX4L29,DUX4L10,DUX4L11,DUX4L12,DUX4L13,DUX4L14,DUX4L15,RPL23AP60,WDR11,ATE1-AS1,NSMCE4A,HTRA1,DMBT1,C10orf120,CUZD1,FAM24B,FAM24A,PSTK,IKZF5,ACADSB,BUB3,GPR26,CHST15,OAT,ABRAXAS2,ZRANB1,TEX36,EDRF1,EDRF1-AS1,UROS,DHX32,LINC00601,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,WDR11-AS1,FGFR2,ATE1,TACC2,BTBD16,PLEKHA1,DMBT1P1,C10orf88,LHPP,FAM53B,CTBP2,FANK1,ADAM12,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PLPP4,CPXM2,EEF1AKMT2,PTPRE,C10orf143,JAKMIP3,KNDC1,BCCIP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001054
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC01561,RPL19P16,LINC01153,RN7SKP167,RPS15AP5,RNU6-728P,MIR3941,ARMS2,HMX3,HMX2,RPS26P39,YBX2P1,NKX1-2,RPS10P18,FAM53B-AS1,NPM1P31,MIR4296,MRPS21P6,RPS27P18,TEX36-AS1,ALDOAP2,MMP21,MIR4484,RNU2-42P,GNG10P1,FANK1-AS1,RNA5SP328,SAR1AP2,FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,WDR11,ATE1-AS1,NSMCE4A,HTRA1,DMBT1,C10orf120,CUZD1,FAM24B,FAM24A,PSTK,IKZF5,ACADSB,BUB3,GPR26,CHST15,OAT,ABRAXAS2,ZRANB1,TEX36,EDRF1,EDRF1-AS1,UROS,DHX32,LINC00601,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,WDR11-AS1,FGFR2,ATE1,TACC2,BTBD16,PLEKHA1,DMBT1P1,C10orf88,LHPP,FAM53B,CTBP2,FANK1,ADAM12,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PLPP4,CPXM2,EEF1AKMT2,PTPRE,C10orf143,JAKMIP3,KNDC1,BCCIP
Controls
No Control Data Available
No Animal Model Data Available