1q24.2-q31.2CNV Type: Deletion
Largest CNV size: 21000000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Deletion
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
22553086
1
0
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
22553087
1
0
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
21000000
1
0
1
Controls
No Control Data Available
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
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case53
5.17 yrs.
F
Developmental delay
Global developmental delay. Ammonia and lactate levels were high, EEG-was normal. Growth parameters: height 0.84 m, weight 10 kg, head circumference 45 cm. Family history: no data on familial consanguinity.
168503684
191056769
22553086
GRCh38
Deletion
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case382
5.17 yrs.
F
Developmental delay
Developmental milestones: global developmental delay (HP:0001263). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 45 cm, height 84 cm, weight 10 kg.
168503683
191056769
22553087
GRCh38
Deletion
No
battaglia_13_DD/ID/ASD_discovery_cases-case21
1 yr. 5 mos.
F
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
170858274
191773580
20915307
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case53
Unknown
ATP1B1,ASTN1,FASLG,SERPINC1,ABL2,CACNA1E,FMO2,F5,FMO3,DPT,FMO1,FMO4,DHX9,CACYBP,KLHL20,SUCO,METTL13,IER5,NME7,SWT1,C1orf112,DARS2,RALGPS2,ODR4,KIAA1614,BRINP2,SCYL3,CCDC181,TNN,LINC00626,TOR3A,COP1,MRPS14,PAPPA2,GAS5,TRMT1L,NPL,C1orf21,ACBD6,MROH9,SHCBP1L,EDEM3,TEX35,HMCN1,GORAB,METTL18,SEC16B,ZBTB37,C1orf105,LHX4,CENPL,RGS8,ZNF648,TEDDM2P,TEDDM1,AXDND1,TSEN15,SIGLEC30P,NIBAN1,OVAAL,NTMT2,FAM163A,RC3H1,TDRD5,TOR1AIP2,MR1,GLUL,LINC01142,LINC01686,SMG7-AS1,SLC9C2,FDPSP1,BRINP3,ANKRD45,KRT18P28,LINC00272,RGSL1,FMO6P,MRPS10P1,CYCSP53,GOT2P2,LINC01344,C1orf220,RPL4P3,CLEC20A,MIR214,APOBEC4,MIR199A2,LINC01720,SLC25A38P1,SUMO1P2,MIR488,ENTR1P2,PTPN2P1,RALGPS2-AS1,SCARNA3,RPL5P5,CRYZL2P,PFN1P1,HMGN1P4,EIF1P3,TEX50,HAUS4P1,YPEL5P1,NDUFAF4P4,MORF4L1P7,RPL22P24,EIF4A1P11,MEF2AP1,MYOC,LAMC2,NCF2,LAMC1,RNU7-13P,RPS29P5,RPSAP16,RPS3AP9,RPL29P7,RPS3AP8,RPS29P4,RPL30P1,LINC01699,GM2AP2,SETP10,MIR1295A,RASAL2-AS1,HMGB1P11,HNRNPA1P54,PTP4A1P7,GAS5-AS1,FTH1P25,MIR3119-2,SLC4A1APP2,MIR3121,MIR3119-1,ISCUP1,MIR3120,MIR4424,RNA5SP66,RNA5SP69,GAPDHP75,RNA5SP73,RNA5SP68,BANF1P4,RNA5SP72,COX5BP8,AIMP1P2,RNA5SP67,DNM3OS,MIR1295B,TNR-IT1,RNU5F-2P,DNM3-IT1,RNASEL,PDC,PTGS2,PLA2G4A,PRRX1,RGS16,RNF2,QSOX1,PIGC,LINC01350,LINC01657,PRDX6-AS1,LINC01633,LINC01732,LINC01741,GORAB-AS1,RABGAP1L-AS1,LINC00970,PACERR,KIAA1614-AS1,LINC01645,LINC01036,PDC-AS1,RABGAP1L-DT,LINC01688,LINC01681,LINC02816,RNU6-41P,RN7SL230P,RN7SKP160,LINC01035,RN7SL269P,SELL,TPR,TNR,XCL1,VDAC1P4,TOP1P1,SELE,SELP,XCL2,SOAT1,TNFSF4,CLPTM1LP1,MCRIP2P2,RNU2-12P,RN7SL654P,RNU6-157P,RNU6-152P,RN7SKP156,RN7SL333P,RNU6-693P,RABGAP1L-IT1,RNU7-183P,RNA5SP70,RNU6-307P,RN7SKP229,RC3H1-IT1,RNU6-1240P,LINC02818,LINC02803,LINC01701,MYOCOS,CRYZL2P-SEC16B,LAMC1-AS1,SRP14P4,TNFSF18,BLZF1,VAMP4,NPHS2,C1orf21-DT,CEP350,RABGAP1L,SMG7,FAM20B,GPR52,XPR1,ARPC5,PRDX6,RASAL2,PRG4,ANGPTL1,KIAA0040,SLC19A2,STX6,IVNS1ABP,COLGALT2,TOR1AIP1,RGL1,PRRC2C,KIFAP3,NMNAT2,DNM3
akter_24_ASD/ADHD/DD/ID_discovery_cases-case382
Unknown
ATP1B1,ASTN1,FASLG,SERPINC1,ABL2,CACNA1E,FMO2,F5,FMO3,DPT,FMO1,FMO4,DHX9,CACYBP,KLHL20,SUCO,METTL13,IER5,NME7,SWT1,C1orf112,DARS2,RALGPS2,ODR4,KIAA1614,BRINP2,SCYL3,CCDC181,TNN,LINC00626,TOR3A,COP1,MRPS14,PAPPA2,GAS5,TRMT1L,NPL,C1orf21,ACBD6,MROH9,SHCBP1L,EDEM3,TEX35,HMCN1,GORAB,METTL18,SEC16B,ZBTB37,C1orf105,LHX4,CENPL,RGS8,ZNF648,TEDDM2P,TEDDM1,AXDND1,TSEN15,SIGLEC30P,NIBAN1,OVAAL,NTMT2,FAM163A,RC3H1,TDRD5,TOR1AIP2,MR1,GLUL,LINC01142,LINC01686,SMG7-AS1,SLC9C2,FDPSP1,BRINP3,ANKRD45,KRT18P28,LINC00272,RGSL1,FMO6P,MRPS10P1,CYCSP53,GOT2P2,LINC01344,C1orf220,RPL4P3,CLEC20A,MIR214,APOBEC4,MIR199A2,LINC01720,SLC25A38P1,SUMO1P2,MIR488,ENTR1P2,PTPN2P1,RALGPS2-AS1,SCARNA3,RPL5P5,CRYZL2P,PFN1P1,HMGN1P4,EIF1P3,TEX50,HAUS4P1,YPEL5P1,NDUFAF4P4,MORF4L1P7,RPL22P24,EIF4A1P11,MEF2AP1,MYOC,LAMC2,NCF2,LAMC1,RNU7-13P,RPS29P5,RPSAP16,RPS3AP9,RPL29P7,RPS3AP8,RPS29P4,RPL30P1,LINC01699,GM2AP2,SETP10,MIR1295A,RASAL2-AS1,HMGB1P11,HNRNPA1P54,PTP4A1P7,GAS5-AS1,FTH1P25,MIR3119-2,SLC4A1APP2,MIR3121,MIR3119-1,ISCUP1,MIR3120,MIR4424,RNA5SP66,RNA5SP69,GAPDHP75,RNA5SP73,RNA5SP68,BANF1P4,RNA5SP72,COX5BP8,AIMP1P2,RNA5SP67,DNM3OS,MIR1295B,TNR-IT1,RNU5F-2P,DNM3-IT1,RNASEL,PDC,PTGS2,PLA2G4A,PRRX1,RGS16,RNF2,QSOX1,PIGC,LINC01350,LINC01657,PRDX6-AS1,LINC01633,LINC01732,LINC01741,GORAB-AS1,RABGAP1L-AS1,LINC00970,PACERR,KIAA1614-AS1,LINC01645,LINC01036,PDC-AS1,RABGAP1L-DT,LINC01688,LINC01681,LINC02816,RNU6-41P,RN7SL230P,RN7SKP160,LINC01035,RN7SL269P,SELL,TPR,TNR,XCL1,VDAC1P4,TOP1P1,SELE,SELP,XCL2,SOAT1,TNFSF4,CLPTM1LP1,MCRIP2P2,RNU2-12P,RN7SL654P,RNU6-157P,RNU6-152P,RN7SKP156,RN7SL333P,RNU6-693P,RABGAP1L-IT1,RNU7-183P,RNA5SP70,RNU6-307P,RN7SKP229,RC3H1-IT1,RNU6-1240P,LINC02818,LINC02803,LINC01701,MYOCOS,CRYZL2P-SEC16B,LAMC1-AS1,SRP14P4,TNFSF18,BLZF1,VAMP4,NPHS2,C1orf21-DT,CEP350,RABGAP1L,SMG7,FAM20B,GPR52,XPR1,ARPC5,PRDX6,RASAL2,PRG4,ANGPTL1,KIAA0040,SLC19A2,STX6,IVNS1ABP,COLGALT2,TOR1AIP1,RGL1,PRRC2C,KIFAP3,NMNAT2,DNM3
battaglia_13_DD/ID/ASD_discovery_cases-case21
FISH or qPCR
Unknown
Unknown
Unknown
MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,RN7SKP160,GAS5-AS1,RNA5SP67,RNA5SP68,RPL30P1,GPR52,BANF1P4,RABGAP1L-IT1,RNU6-307P,CACYBP,SDCCAG3P2,RPS29P4,LINC01657,RPS29P5,SCARNA3,RNU2-12P,MORF4L1P7,PTP4A1P7,MIR488,RASAL2-AS1,C1orf220,RNA5SP69,MIR4424,PTPN2P1,SETP10,EIF4A1P11,COX5BP8,MEF2AP1,RNU5F-2P,RN7SL230P,RPSAP16,VDAC1P4,MIR3121,OVAAL,KIAA1614-AS1,LINC01732,LINC01699,RNA5SP70,RN7SKP229,YPEL5P1,RNU6-152P,EIF1P3,TEDDM1,LINC00272,TEDDM2P,HMGN1P4,RNA5SP71,RNU6-41P,RN7SL654P,RNU7-13P,RNA5SP72,FTH1P25,RPL22P24,RPL5P5,GS1-279B7.1,RNU7-183P,MCRIP2P2,RNU6-1240P,PACERR,SLC4A1APP2,RN7SKP156,CLPTM1LP1,GAPDHP75,RNA5SP73,HNRNPA1P46,LINC01680,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,DARS2,GAS5,ZBTB37,SERPINC1,RC3H1-IT1,MRPS14,KIAA0040,TNR-IT1,LINC01645,LINC01741,SEC16B,CRYZL2P,CLEC20A,ANGPTL1,TOR3A,HNRNPA1P54,TDRD5,FAM163A,TOR1AIP2,TOR1AIP1,QSOX1,LHX4,KIAA1614,MR1,IER5,GLUL,RGS16,LINC01686,RGS8,NPL,SHCBP1L,KRT18P28,LAMC1-AS1,SMG7-AS1,NCF2,APOBEC4,TSEN15,EDEM3,LINC01633,TRMT1L,IVNS1ABP,PRG4,TPR,OCLM,PDC,PTGS2,RPS3AP9,LINC01351,MROH9,PRRC2C,VAMP4,SLC9C2,CENPL,RC3H1,RABGAP1L,NDUFAF4P4,TNR,PAPPA2,ASTN1,CRYZL2P-SEC16B,TEX35,RALGPS2,FAM20B,ABL2,AXDND1,NPHS2,CEP350,XPR1,STX6,ZNF648,LINC01344,RNASEL,LINC01688,DHX9,LAMC1,LAMC2,NMNAT2,ARPC5,RGL1,COLGALT2,FAM129A,RNF2,SWT1,HMCN1,ODR4,PLA2G4A,ERVMER61-1,FDPSP1,LINC01035,BRINP3,LINC01720,DNM3,TNN,BRINP2,RASAL2,SOAT1,ACBD6,CACNA1E,RGSL1,SMG7,LINC01350,LINC01701,COP1,C1orf21
Controls
No Control Data Available
No Animal Model Data Available