18q21.31-q23CNV Type: Deletion
Largest CNV size: 23897591 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Deletions within this region were identified in two cases 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
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
21929328
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
23897591
2
0
2
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
23551796
1
0
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
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case86
1.42 yrs.
M
Developmental delay
Developmental delay, complete cleft lip with cleft palate, ring chromosome found in karyotyping. Growth parameters: height 0.76 m, weight 7 kg, head circumference 44 cm. Family history: no data on familial consanguinity.
58298202
80227529
21929328
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000994
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56618038
80252149
23634112
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001591
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56353040
80209986
23856947
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case256
NA
M
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Severe intellectual disability
56703141
80254936
23551796
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case86
Unknown
CDH7,ACTBP9,BCL2,CYB5A,SALL3,CDH20,CDH19,RAX,TIMM21,ZCCHC2,TMX3,CNDP2,ZNF407,ZNF532,RELCH,RBFA,CCDC102B,SLC66A2,NETO1,CNDP1,DSEL,SERPINB12,PARD6G,SERPINB11,SEC11C,ALPK2,DIPK1C,CBLN2,CCBE1,FAUP1,DOK6,RNF152,GTSCR1,FBXO15,LINC00305,CTBP2P3,GLUD1P4,GALR1,KDSR,GRP,LINC01924,ZADH2,HMSD,SMIM21,CPLX4,RPS2P6,ATP9B,ENTR1P1,MRPS5P4,LINC01879,LINC02864,OACYLP,LINC00683,ZNF407-AS1,ARL2BPP1,RPS3AP49,LINC01538,ZNF516-DT,MIR122,HSBP1L1,RPIAP1,NFE2L3P1,RPL31P9,DSEL-AS1,AKR1B10P2,C18orf63,LINC01896,SINHCAFP2,HMGN1P31,BDP1P,RPL26P35,HNRNPA1P11,RPL30P14,PARD6G-AS1,RPL17P44,MBP,MTL3P,NFATC1,SERPINB2,MC4R,LMAN1,ZNF236-DT,RPS26P54,FAM32DP,RPL9P31,RPL12P39,MRPL37P1,LINC01541,SLC25A6P4,LINC01898,NETO1-DT,RBFADN,SDHCP1,ATP5MC1P6,LINC02582,PRPF19P1,MIR3591,MIR5011,MIR548AV,RNU6-39P,LINC01544,RNA5SP461,RNA5SP460,LINC01029,LINC01910,ZNF516-AS1,LINC01927,LINC01922,MALT1-AS1,LINC01909,LINC01903,PMAIP1,SERPINB8,SERPINB13,SERPINB10,SERPINB5,LINC01899,LIVAR,LINC01893,LINC01912,LINC01926,RN7SL342P,SERPINB4,SERPINB3,RN7SL795P,RNU6-567P,RNU6-219P,RNU6-142P,CCND3P2,RN7SL551P,RNU6-655P,RNU4-17P,RN7SL401P,RNU6-116P,RNU6-1037P,RNU2-69P,SNORA108,LARP7P3,RN7SL705P,RNU6-346P,LINC01916,MIR122HG,SERPINB7,TNFRSF11A,ZNF236,KDSR-DT,TSHZ1,VPS4B,ZNF516,CTDP1,SOCS6,CD226,MALT1,TXNL4A,ADNP2,NEDD4L,RTTN,PHLPP1,PIGN,KCNG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000994
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,MALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001591
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,MALT1
streata_22_ASD/DD/ID_discovery_cases-case256
Unknown
CDH7,ACTBP9,BCL2,CYB5A,FECH,SALL3,CDH20,CDH19,ST8SIA3,RAX,TIMM21,ZCCHC2,TMX3,CNDP2,ZNF407,ZNF532,RELCH,RBFA,CCDC102B,SLC66A2,NETO1,CNDP1,DSEL,SERPINB12,PARD6G,SERPINB11,SEC11C,ALPK2,DIPK1C,CBLN2,CCBE1,FAUP1,DOK6,RNF152,GTSCR1,FBXO15,LINC00305,CTBP2P3,GLUD1P4,GALR1,KDSR,GRP,RSL24D1P11,LINC01924,ZADH2,HMSD,SMIM21,BOD1L2,CPLX4,RPS2P6,ATP9B,ENTR1P1,MRPS5P4,LINC01879,LINC02864,OACYLP,LINC00683,ZNF407-AS1,ARL2BPP1,RPS3AP49,LINC01538,ZNF516-DT,MIR122,HSBP1L1,RPIAP1,NFE2L3P1,RPL31P9,DSEL-AS1,AKR1B10P2,C18orf63,LINC01896,SINHCAFP2,HMGN1P31,BDP1P,RPL26P35,HNRNPA1P11,RPL30P14,PARD6G-AS1,RPL17P44,NARS1,MBP,MTL3P,NFATC1,SERPINB2,MC4R,LMAN1,ZNF236-DT,RPS26P54,HMGN1P30,FAM32DP,RPL9P31,RPL12P39,MRPL37P1,LINC01541,SLC25A6P4,LINC01898,NETO1-DT,RBFADN,SDHCP1,ATP5MC1P6,LINC02582,PRPF19P1,MIR3591,MIR5011,MIR548AV,RNU6-39P,LINC01544,LINC-ROR,RNA5SP461,RNA5SP460,LINC01029,LINC01910,ZNF516-AS1,LINC01927,LINC01922,MALT1-AS1,LINC01909,LINC01903,PMAIP1,SERPINB8,ATP8B1,SERPINB13,SERPINB10,SERPINB5,LINC01899,LIVAR,LINC02565,LINC01893,LINC01912,LINC01926,RN7SL342P,SERPINB4,SERPINB3,RN7SL795P,RNU6-567P,RNU6-219P,RNU6-142P,CCND3P2,RN7SL551P,RNU6-655P,RNU4-17P,RN7SL401P,RNU6-116P,RNU6-737P,RNU6-742P,RNU6-1037P,RNU2-69P,SNORA108,LARP7P3,RN7SL705P,RNU6-346P,LINC01916,LINC01897,WDR7-OT1,MIR122HG,SERPINB7,TNFRSF11A,ZNF236,KDSR-DT,ONECUT2,TSHZ1,VPS4B,ZNF516,CTDP1,SOCS6,CD226,MALT1,TXNL4A,ADNP2,NEDD4L,RTTN,PHLPP1,PIGN,KCNG2,WDR7
Controls
No Control Data Available
No Animal Model Data Available