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11q24.1-q25CNV Type: Deletion-Duplication


Largest CNV size: 13505195 bp

Statistics Box:
Number of Reports: 4



Summary Information

CNVs within this region were identified in cases with developmental delay from two recent CNV reports (Kaminsky et al., 2011; Iourov et al., 2012).

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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...
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
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
 akshoomoff_14_ASD_discovery_cases
 17 patients with Jacobsen syndrome (11q terminal deletion disorder), prospectively recruited from the 11q Research and Resource Group; and 3 additional patients with atypical distal 11q deletions
 20
 Diagnosis of ASD assessed using ADOS (n=18) or ADI-R (n=2). Cognitive abilities in cases assessed using the Bayley Scales of Infant and Toddler Development, Third Edition; the Differential Ability Scales; the Wechsler Intelligence Scale for Children, Fourth Edition; or the Wechsler Adult Intelligence Scale, Fourth Edition.
 Range, 3.8-21.9 yrs.
 20.0% Male
 12900000
 9
 0
 9
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 13505195
 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
 11244206
 0
 1
 1
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 11600000
 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
 akshoomoff_14_ASD_discovery_cases
  N/A
 aCGH
  Signature Genomics custom-designed OS V2.0
 
 
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 FISH
 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
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH

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
  akshoomoff_14_ASD_discovery_cases-patient10
 5.3 yrs.
 F
 Jacobsen syndrome
 Research diagnosis: non-spectrum. ADOS classification: non-spectrum. SCQ score above cutoff: no.
 IQ estimate: 49 (test given: Differential Ability Scales, Preschool Version). VABS-II composite score: 69.
 122528474
 135006516 (approximate endpoint)
  12400000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient11
 12.1 yrs.
 M
 Jacobsen syndrome
 Research diagnosis: non-spectrum. ADOS classification: incomplete. SCQ score above cutoff: no.
 IQ estimate: 48 (test given: Differential Ability Scales). VABS-II composite score: 70.
 122427330
 135006516 (approximate endpoint)
  12500000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient12
 4.0 yrs.
 F
 Jacobsen syndrome
 Research diagnosis: non-spectrum. ADOS classification: non-spectrum. SCQ score above cutoff: no.
 IQ estimate: 48 (test given: Differential Ability Scales, Preschool Version). VABS-II composite score: 67.
 122922120
 135006516 (approximate endpoint)
  12000000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient13
 9.5 yrs.
 M
 ASD and Jacobsen syndrome
 Research diagnosis: ASD. ADOS classification: ASD. SCQ score above cutoff: N/A.
 IQ estimate: N/A. VABS-II composite score: 63.
 121985790
 135006516 (approximate endpoint)
  12900000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient19
 9.2 yrs.
 M
 ASD
 Research diagnosis: ASD. ADOS classification: autism. SCQ score above cutoff: no.
 IQ estimate: 74 (test given: Differential Ability Scales, Preschool Version). VABS-II composite score: 75.
 123855406
 131350312
  7500000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient6
 5.2 yrs.
 M
 ASD and Jacobsen syndrome
 Research diagnosis: ASD. ADOS classification: autism. SCQ score above cutoff: no.
 IQ estimate: 41 (test given: Differential Ability Scales, Preschool Version). VABS-II composite score: 60.
 123644382
 135006516 (approximate endpoint)
  10800000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient7
 21.1 yrs.
 F
 Jacobsen syndrome
 Research diagnosis: non-spectrum. ADOS classification: non-spectrum. SCQ score above cutoff: no.
 IQ estimate: 64 (test given: Wechsler Adult Intelligence Scal-Fourth Edition). VABS-II composite score: 61.
 123554790
 135006516 (approximate endpoint)
  11300000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient8
 6.1 yrs.
 F
 ASD and Jacobsen syndrome
 Research diagnosis: ASD. ADOS classification: autism. SCQ score above cutoff: no.
 IQ estimate: 73 (test given: Differential Ability Scales, Preschool Version). VABS-II composite score: 71.
 123435656
 135006516 (approximate endpoint)
  11450000
 Unknown
 Deletion
 No
  akshoomoff_14_ASD_discovery_cases-patient9
 21.9 yrs.
 F
 Jacobsen syndrome
 Research diagnosis: non-spectrum. ADOS classification: non-spectrum. SCQ score above cutoff: no.
 IQ estimate: 61 (test given: Wechsler Adult Intelligence Scal-Fourth Edition). VABS-II composite score: 99.
 123473991
 135006516 (approximate endpoint)
  11400000
 Unknown
 Deletion
 No
  iourov_12_ASD/ID/EP_discovery_cases-case4
 8 yrs.
 F
 Developmental delay/intellectual disability
 Microcephaly, single transverse palmar crease, acrosyndactyly, microphthalmia, optic nerve atrophy, downslanting palpebral fissures. Karyotyping: r(11)(p15.5q24.1)
 Developmental delay/intellectual disability
 121540683
 135046693
  13506011
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004273
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 123753493
 134998513
  11245021
 GRCh38
 Duplication
 Yes
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase13
 5 yrs.
 M
 Learning disability (developmental delay/intellectual disability)
 Dysmorphism
 
 123437733
 135076622
  11638890
 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
 akshoomoff_14_ASD_discovery_cases-patient10
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: UBASH3B,CRTAM,C11orf63,BSX,HSPA8,CLMP,GRAMD1B,SCN3B,ZNF202,OR6X1,OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 akshoomoff_14_ASD_discovery_cases-patient11
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: UBASH3B,CRTAM,C11orf63,BSX,HSPA8,CLMP,GRAMD1B,SCN3B,ZNF202,OR6X1,OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 akshoomoff_14_ASD_discovery_cases-patient12
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: HSPA8,CLMP,GRAMD1B,SCN3B,ZNF202,OR6X1,OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 akshoomoff_14_ASD_discovery_cases-patient13
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: BLID,UBASH3B,CRTAM,C11orf63,BSX,HSPA8,CLMP,GRAMD1B,SCN3B,ZNF202,OR6X1,OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 akshoomoff_14_ASD_discovery_cases-patient19
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM
 
 akshoomoff_14_ASD_discovery_cases-patient6
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 akshoomoff_14_ASD_discovery_cases-patient7
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: ZNF202,OR6X1,OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 akshoomoff_14_ASD_discovery_cases-patient8
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: GRAMD1B,SCN3B,ZNF202,OR6X1,OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 akshoomoff_14_ASD_discovery_cases-patient9
 
 
 Unknown
 Unknown
 Unknown
 Estimated gene content: GRAMD1B,SCN3B,ZNF202,OR6X1,OR6M1,TMEM225,OR8D4,OR4D5,OR6T1,OR10S1,OR10G4,OR10G9,OR10G8,OR10G7,VWA5A,OR8G2,OR8G1,OR8G5,OR8D1,OR8D2,OR8B2,OR8B3,OR8B4,OR8B8,OR8B12,OR8A1,PANX3,TBRG1,SIAE,SPA17,NRGN,VSIG2,ESAM,MSANTD2,ROBO3,ROBO4,HEPACAM,HEPN1,CCDC15,SLC37A2,TMEM218,PKNOX2,FEZ1,EI24,STT3A,CHEK1,ACRV1,PATE1,PATE2,PATE3,PATE4,HYLS1,PUS3,DDX25,CDON,RPUSD4,FAM118B,SRPR,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3,ETS1,FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 iourov_12_ASD/ID/EP_discovery_cases-case4
 FISH
 
 Unknown
 Unknown
 Unknown
 RNU6-256P,MIR125B1,BLID,MIRLET7A2,MIR100,RNU4ATAC10P,RNU4ATAC5P,RNU6-592P,GLULP3,RNU4-23P,ATP5PBP5,RPL34P23,RPS26P43,RPL31P47,SNORD14E,SNORD14D,SNORD14C,PHBP17,MIR4493,SF3A3P2,OR6X1,RNU1-21P,OR6M1,OR6M2P,OR6M3P,TMEM225,OR8D4,OR4D5,OR6T1,OR10G6,OR10G5P,OR10G4,OR10G9,OR10G7,OR10D5P,OR10D4P,OR10D1P,OR10D3,OR8F1P,OR8G3P,OR8G2P,OR8G7P,OR8G1,OR8G5,SLC5A4P1,OR8D2,OR8B7P,OR8B6P,OR8B5P,OR8B1P,OR8C1P,OR8B2,OR8B3,OR8X1P,OR8B4,OR8B8,OR8A2P,OR8B9P,OR8B10P,OR8A3P,OR8B12,OR8Q1P,RNA5SP352,NRGN,ESAM,HEPN1,PKNOX2-AS1,RNU6-321P,RNU6-1156P,RNU2-35P,ACRV1,PATE2,PATE3,PATE4,VSIG10L2,NAP1L1P1,RNU4-86P,RN7SL351P,SRPRA,RPL35AP26,MIR3167,KIRREL3-AS3,RN7SKP121,RN7SKP279,MIR6090,ETS1-AS1,SENCR,C11orf45,RNU6-876P,RNU6-874P,ZNF123P,RPS27P20,LINC00167,ELOBP2,RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,CRTAM,BSX,HSPA8,SCN3B,OR10S1,OR10G8,OR10N1P,OR8D1,OR8A1,PANX3,TBRG1,SPA17,VSIG2,ROBO3,ROBO4,HEPACAM,CCDC15,SLC37A2,TMEM218,KRT18P59,EI24,STT3A,CHEK1,PATE1,HYLS1,PUS3,DDX25,RPUSD4,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3-AS1,KIRREL3-AS2,LINC02098,KCNJ5,TP53AIP1,BARX2,LINC01395,TMEM45B,PRDM10,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,SORL1,MIR100HG,JHY,CLMP,GRAMD1B,VWA5A,SIAE,PKNOX2,FEZ1,CDON,FAM118B,GSEC,ETS1,FLI1,KCNJ1,NFRKB,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,UBASH3B,ZNF202,MSANTD2,KIRREL3,ARHGAP32,NTM,OPCML,NCAPD3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004273
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OR6X1,RNU1-21P,OR6M1,OR6M2P,OR6M3P,TMEM225,OR8D4,OR4D5,OR6T1,OR10G6,OR10G5P,OR10G4,OR10G9,OR10G7,OR10D5P,OR10D4P,OR10D1P,OR10D3,OR8F1P,OR8G3P,OR8G2P,OR8G7P,OR8G1,OR8G5,SLC5A4P1,OR8D2,OR8B7P,OR8B6P,OR8B5P,OR8B1P,OR8C1P,OR8B2,OR8B3,OR8X1P,OR8B4,OR8B8,OR8A2P,OR8B9P,OR8B10P,OR8A3P,OR8B12,OR8Q1P,RNA5SP352,NRGN,ESAM,HEPN1,PKNOX2-AS1,RNU6-321P,RNU6-1156P,RNU2-35P,ACRV1,PATE2,PATE3,PATE4,VSIG10L2,NAP1L1P1,RNU4-86P,RN7SL351P,SRPRA,RPL35AP26,MIR3167,KIRREL3-AS3,RN7SKP121,RN7SKP279,MIR6090,ETS1-AS1,SENCR,C11orf45,RNU6-876P,RNU6-874P,ZNF123P,RPS27P20,LINC00167,ELOBP2,RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,OR10S1,OR10G8,OR10N1P,OR8D1,OR8A1,PANX3,TBRG1,SPA17,VSIG2,ROBO3,ROBO4,HEPACAM,CCDC15,SLC37A2,TMEM218,KRT18P59,EI24,STT3A,CHEK1,PATE1,HYLS1,PUS3,DDX25,RPUSD4,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3-AS1,KIRREL3-AS2,LINC02098,KCNJ5,TP53AIP1,BARX2,LINC01395,TMEM45B,PRDM10,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,VWA5A,SIAE,PKNOX2,FEZ1,CDON,FAM118B,GSEC,ETS1,FLI1,KCNJ1,NFRKB,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,MSANTD2,KIRREL3,ARHGAP32,NTM,OPCML,NCAPD3
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase13
 BACs aCGH or FISH
 
 Unknown
 Unknown
 Unknown
 SF3A3P2,OR6X1,RNU1-21P,OR6M1,OR6M2P,OR6M3P,TMEM225,OR8D4,OR4D5,OR6T1,OR10G6,OR10G5P,OR10G4,OR10G9,OR10G7,OR10D5P,OR10D4P,OR10D1P,OR10D3,OR8F1P,OR8G3P,OR8G2P,OR8G7P,OR8G1,OR8G5,SLC5A4P1,OR8D2,OR8B7P,OR8B6P,OR8B5P,OR8B1P,OR8C1P,OR8B2,OR8B3,OR8X1P,OR8B4,OR8B8,OR8A2P,OR8B9P,OR8B10P,OR8A3P,OR8B12,OR8Q1P,RNA5SP352,NRGN,ESAM,HEPN1,PKNOX2-AS1,RNU6-321P,RNU6-1156P,RNU2-35P,ACRV1,PATE2,PATE3,PATE4,VSIG10L2,NAP1L1P1,RNU4-86P,RN7SL351P,SRPRA,RPL35AP26,MIR3167,KIRREL3-AS3,RN7SKP121,RN7SKP279,MIR6090,ETS1-AS1,SENCR,C11orf45,RNU6-876P,RNU6-874P,ZNF123P,RPS27P20,LINC00167,ELOBP2,RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,SCN3B,OR10S1,OR10G8,OR10N1P,OR8D1,OR8A1,PANX3,TBRG1,SPA17,VSIG2,ROBO3,ROBO4,HEPACAM,CCDC15,SLC37A2,TMEM218,KRT18P59,EI24,STT3A,CHEK1,PATE1,HYLS1,PUS3,DDX25,RPUSD4,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3-AS1,KIRREL3-AS2,LINC02098,KCNJ5,TP53AIP1,BARX2,LINC01395,TMEM45B,PRDM10,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,GRAMD1B,VWA5A,SIAE,PKNOX2,FEZ1,CDON,FAM118B,GSEC,ETS1,FLI1,KCNJ1,NFRKB,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,ZNF202,MSANTD2,KIRREL3,ARHGAP32,NTM,OPCML,NCAPD3
 

Controls

No Control Data Available
No Animal Model Data Available
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