2q37.2-q37.3CNV Type: Deletion
Largest CNV size: 6286648 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Strong association of de novo copy number mutations with autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
622241
0
1
1
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
6835119
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
7200000
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
7176187
3
3
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
11525
1
0
1
mazzone_12_MR/ASD_discovery_cases
Unrelated patients with brachidactyly-mental retardation (BDMR) syndrome that were referred for developmental delay and social, behavioral, facial, & physical abnormalities and were subsequently diagnosed with autism/ASD that progressively improved over time.
2
Mental retardation (MR) and autism/ASD. Primary diagnosis of brachidactyly-mental retardation (BDMR) syndrome. Additional diagnosis of autism/ASD based on ADI-R, ADOS, and CARS scales and meeting DSM-IV-TR criteria. One patient with additional diagnosis of epilepsy/seizures. Both patients demonstrated progressive decrease in ASD symptoms and behaviors over time.
Range, 8-9 yrs.
50% Male
7200000
2
0
2
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
5859260
1
0
1
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
6286648
1
0
1
wang_20_ID_discovery_cases
Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
95
All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
Range, 1 yr. 1 mo.-16 yrs.
68.0% Male
7886494
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
6286648
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
mazzone_12_MR/ASD_discovery_cases
NA
G-banded karyotyping
aCGH (Agilent 44A)
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
wang_20_ID_discovery_cases
Han Chinese
WGS
Illumina HiSeq 2000
Short Oligonucleotide Analysis Package (SOAP) v.2.21
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
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_19_ASD/DD/ID_discovery_cases-case6
N/A
F
Developmental delay
Developmental delay, convulsions and facial dysmorphism
235824891
236447131
622241
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case712
F
Developmental delay and learning disability
Sagittal craniostenosis, motor delay, short fingers, facial dysmorphism.
Specific learning disability.
235004988
241840106
6835119
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296349
N/A
F
Developmental delay/intellectual disability
234966658
242099213
7132556
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001080
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
236043791
237379158
1335368
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001590
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
235563664
242086301
6522638
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002152
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
235741079
242032456
6291378
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004067
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
234906462
242065208
7158747
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004818
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
235268768
242065208
6796441
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004872
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
235268768
242126245
6857478
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11030.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
236380550
236392075
11526
GRCh38
Deletion
Yes
mazzone_12_MR/ASD_discovery_cases-patient1
9 yrs.
M
Autism + mental retardation
Primary diagnosis of brachidactyly-mental retardation (BDMR) syndrome. Developmental milestones: delay in early motor and language milestones. Diagnosis of autism at 4 yrs. of age (met ADI-R, ADOS, and DSM-IV criteria; CARS score of 46). Autistic symptoms at time of first evaluation (at age of 4 yrs.): impairment in social interaction with abnormal eye-to-eye contact, lack of spontaneous seeking to share enjoyment or interests with other people (i.e. interest in simple social games), and repetitive motor mannerisms with a restricted pattern of interests and an apparently inflexible adherence to specific non-functional routines or rituals (persistent fascination for circular objects); disruptive behavior, self-injury, aggression, hyperactivity and tantrums, also present. Progressive decrease of ASD symptoms and behaviors observed in subsequent evaluations. ADI-R social interaction scores (age at testing): 24 (4 yrs); 15 (5 yrs); 12 (6 yrs); 6 (7 yrs). ADI-R communication scores (age at testing): 12 (4 yrs); 9 (5 yrs); 7 (6 yrs); 6 (7 yrs). ADI-R repetitive behavior scores (age at testing): 6 (4 yrs); 5 (5 yrs); 4 (6 yrs); 3 (7 yrs). ADOS language and communication scores (age at testing): 9 (4 yrs); 6 (5 yrs); 4 (6 yrs); 2 (7 yrs). ADOS social interaction scores (age at testing): 14 (4 yrs); 10 (5 yrs); 8 (6 yrs); 5 (7 yrs). ADOS total scores (age at testing): 23 (4 yrs); 16 (5 yrs); 12 (6 yrs); 7 (7 yrs). CARS total scores (age at testing): 46 (4 yrs; severe autism); 35 (5 yrs); 32 (6 yrs; mild-moderate autism); 30 (7 yrs). DSM-IV-TR diagnosis at 6 yrs of PDD-NOS. Dysmorphic features: frontal bossing with forehead narrowing, deep-set eyes, strabismus, narrow palpebral fissures, thin arched and laterally displaced eyebrows, nose with depressed root, hypoplastic alae and bulbous tip, flat philtrum, thin upper lip, small and low set ears, short neck, slight brachydactyly of the III-IV metacarpal bones. Musculoskeletal features: joint hyperlaxity, truncal hypotonia, kyphoscoliosis, ataxia, clumsiness. Nasal voice. Treatment: matched treatment focused primarily on speech & psychomotory therapy; supplementary cognitive-behavioral therapy; received Picture Exchange Communication System (PECS) to improve communication skills; no pharmacological treatment.
Mental retardation; Leiter IQ scores (age at testing): 40 (6 yrs.); 40 (7 yrs.); 42 (9 yrs.)
234762183
242160331
7398149
GRCh38
Deletion
Yes
mazzone_12_MR/ASD_discovery_cases-patient2
8 yrs.
F
Autism + mental retardation
Primary diagnosis of brachidactyly-mental retardation (BDMR) syndrome. Developmental milestones: delay in early motor and language milestones. Diagnosis of autism at 3 yrs. 4 mos. of age (met ADI-R, ADOS, and DSM-IV-TR criteria; CARS score of 50). Autistic symptoms at time of first evaluation (at age of 3 yrs 4 mos.): impairment in social interaction with abnormal eye-to-eye contact, lack of spontaneous seeking to share enjoyment or interests with other people (i.e. interest in simple social games), and repetitive motor mannerisms with a restricted pattern of interests and an apparently inflexible adherence to specific non-functional routines or rituals (persistent fascination for circular objects); disruptive behavior, self-injury, aggression, hyperactivity and tantrums, also present. Progressive decrease of ASD symptoms and behaviors observed in subsequent evaluations. ADI-R social interaction scores (age at testing): 27 (3 yrs 6 mos); 24 (4 yrs 2 mos); 19 (5 yrs); 10 (6 yrs). ADI-R communication scores (age at testing): 15 (3 yrs 6 mos); 12 (4 yrs 2 mos); 11 (5 yrs); 10 (6 yrs). ADI-R repetitive behavior scores (age at testing): 9 (3 yrs 6 mos); 7 (4 yrs 2 mos); 6 (5 yrs); 5 (6 yrs). ADOS language and communication scores (age at testing): 10 (3 yrs 6 mos); 9 (4 yrs 2 mos); 7 (5 yrs); 7 (6 yrs). ADOS social interaction scores (age at testing): 14 (3 yrs 6 mos); 12 (4 yrs 2 mos); 10 (5 yrs); 9 (6 yrs). ADOS total scores (age at testing): 24 (3 yrs 6 mos); 21 (4 yrs 2 mos); 17 (5 yrs); 16 (6 yrs). CARS total scores (age at testing): 50 (3 yrs 6 mos; severe autism); 46.5 (4 yrs 2 mos); 43 (5 yrs; severe autism); 40.5 (6 yrs). Epilepsy/seizures: simplex & complex febrile and afebrile seizures. Dysmorphic features: forehead with lateral hyperthricosis, upslanting palpebral, thin arched and laterally displaced eyebrows, depressed nasal root, hypoplastic alae, short philtrum, prominent columella fissures, thin upper lip, large ears, brachydactyly of the IV metacarpal bone. Musculoskeletal features: diffuse hypotonia, ataxia, clumsiness, joint laxity. Nasal voice. Treatment: matched treatment focused primarily on speech & psychomotory therapy; no pharmacological treatment.
Mental retardation; Leiter IQ scores (age at testing): 35 (5 yrs.); 38 (6 yrs.); 40 (8 yrs.)
236277078
242160331
5883254
GRCh38
Deletion
Yes
sandoval_talamantes_23_ASD_discovery_cases-caseAUT49
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with developmental delay, ectopic kidney, hyperactivity, dolichocephaly, prominent forehead, hypoplasia of the middle third of the face, and short palpebral fissures.
236051215
241910474
5859260
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-61-2710-3
NA
M
Autism
NA
NA
236414455
242701103
6286648
Unknown
Deletion
Yes
wang_20_ID_discovery_cases-case12
4 yrs.
M
Developmental delay and intellectual disability
Facial dysmorphism, global developmental delay, neonatal hypoglycemia
Intellectual disability
234251356
242137849
7886494
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
chaves_19_ASD/DD/ID_discovery_cases-case6
Unknown
TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,ASB18,IQCA1,AGAP1
chaves_24_ASD/DD/ID_discovery_cases-case712
Unknown
AGXT,BOK,KIF1A,DTYMK,COL6A3,PRLH,ANKMY1,ANO7,THAP4,SCLY,ASB1,HES6,ACKR3,RNPEPL1,RAB17,GAL3ST2,MAB21L4,IQCA1,MLPH,ILKAP,ING5,AGAP1,NEU4,TWIST2,MTERF4,COPS9,LINC01107,OR6B3,UBE2F,LINC02610,ERFE,OTOS,UICLM,HDLBP,GPR35,GBX2,GPC1,ESPNL,DUSP28,AQP12A,KLHL30,RBM44,OR6B2,KLHL30-AS1,ASB18,OR5S1P,LINC01940,OR9S24P,MIR149,CEP19P1,D2HGDH,CROCC2,AQP12B,RPL3P5,SEPTIN2,NDUFA10,BOK-AS1,MIR3133,MIR4269,KCTD5P1,MIR4440,MIR2467,AGAP1-IT1,TMSB10P1,MIR4786,UBE2F-SCLY,RNA5SP122,MIR4441,CAPN10-DT,PPP1R7,HDAC4-AS1,MIR6811,SNED1-AS1,LINC01937,RNU6-234P,RNU6-1140P,RNU7-127P,RN7SL204P,RNU1-31P,RNU6-1051P,RNU6-1333P,IQCA1-AS1,PER2,FARP2,HDAC4,LRRFIP1,CAPN10,STK25,COPS8,RAMP1,TRAF3IP1,PASK,ATG4B,SH3BP4,SNED1
digregorio_17_DD/ID_discovery_cases-DECIPHER_296349
qPCR
De novo
AGAP1-IT1,TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,LINC01238,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,SH3BP4,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,LINC01881,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001080
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,ASB18,ACKR3,COPS8,IQCA1,COL6A3,AGAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001590
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002152
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004067
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AGAP1-IT1,TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,SH3BP4,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004818
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AGAP1-IT1,TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004872
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AGAP1-IT1,TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,LINC01238,CICP10,SEPT14P2,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,LINC01881,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
krumm_15_ASD_discovery_cases-case11030.p1
Illumina 1M
Paternal
Simplex
Segregated
IQCA1-AS1,IQCA1
mazzone_12_MR/ASD_discovery_cases-patient1
aCGH (Agilent 44A)
De novo
Unknown
Possibly segregated
AGAP1-IT1,TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,LINC01238,CICP10,SEPT14P2,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,SH3BP4,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,LINC01881,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
mazzone_12_MR/ASD_discovery_cases-patient2
aCGH (Agilent 44A)
De novo
Unknown
Possibly segregated
IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,LINC01238,CICP10,SEPT14P2,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,LINC01937,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPT2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,LINC01881,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
sandoval_talamantes_23_ASD_discovery_cases-caseAUT49
Unknown
AGXT,BOK,KIF1A,DTYMK,COL6A3,PRLH,ANKMY1,ANO7,THAP4,SCLY,ASB1,HES6,ACKR3,RNPEPL1,RAB17,GAL3ST2,MAB21L4,IQCA1,MLPH,ILKAP,ING5,AGAP1,NEU4,TWIST2,MTERF4,COPS9,LINC01107,OR6B3,UBE2F,LINC02610,ERFE,OTOS,UICLM,HDLBP,GPR35,GBX2,GPC1,RTP5,ESPNL,DUSP28,FAM240C,AQP12A,KLHL30,RBM44,OR6B2,KLHL30-AS1,ASB18,OR5S1P,LINC01940,OR9S24P,MIR149,D2HGDH,CROCC2,AQP12B,RPL3P5,SEPTIN2,NDUFA10,BOK-AS1,MIR3133,MIR4269,KCTD5P1,MIR4440,MIR2467,MIR4786,UBE2F-SCLY,RNA5SP122,MIR4441,CAPN10-DT,LINC01237,PDCD1,PPP1R7,HDAC4-AS1,MIR6811,SNED1-AS1,LINC01937,RNU6-234P,RNU6-1140P,RN7SL204P,RNU1-31P,RNU6-1051P,RNU6-1333P,IQCA1-AS1,PER2,FARP2,HDAC4,LRRFIP1,CAPN10,STK25,COPS8,RAMP1,TRAF3IP1,PASK,ATG4B,SNED1
sebat_07_ASD_discovery_cases-61-2710-3
390K ROMA or Agilent 244K aCGH, G-banded karyotyping, microsatellite
De novo
Simplex
NA
AGAP1,GBX2,ASB18,IQCA1,CXCR7,COPS8,COL6A3,MLPH,PRLH,RAB17,LRRFIP1,RBM44,RAMP1,UBE2F,UBE2F-SCLY,SCLY,ESPNL,KLHL30,ILKAP,LOC151174,LOC643387,HES6,PER2,TRAF3IP1,ASB1,LOC151171,FLJ43879,HDAC4,MIR4440,MIR4441,MGC16025,MIR4269,MIR2467,LOC150935,MIR4786,NDUFA10,OR6B2,PRR21,OR6B3,MYEOV2,OTOS,GPC1,PP14571,MIR149,ANKMY1,DUSP28,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,KIF1A,AGXT,C2orf54,LOC200772,SNED1,MTERFD2,PASK,PPP1R7,ANO7,HDLBP,SEPT2,FARP2,STK25,BOK-AS1,BOK,THAP4,ATG4B,DTYMK,ING5,D2HGDH,GAL3ST2,NEU4
wang_20_ID_discovery_cases-case12
Unknown
Unknown
Unknown
LINC01891,HSPE1P9,ARL4C,AGAP1-IT1,TMSB10P1,RNU7-127P,RN7SL204P,GBX2,RNU1-31P,IQCA1-AS1,RPL3P5,RNU6-1051P,MIR6811,RNU6-1140P,PRLH,RNU6-1333P,KLHL30-AS1,ERFE,LINC02610,RNU6-234P,LINC01940,MIR4440,MIR4441,MIR4269,MIR2467,HDAC4-AS1,MIR4786,OR6B2,OR6B3,OR9S24P,OR5S1P,COPS9,MIR149,DUSP28,CAPN10-DT,MIR3133,RNA5SP122,PDCD1,RTP5,FAM240C,LINC01238,CICP10,SEPTIN14P2,LINC01173,ASB18,ACKR3,COPS8,RAB17,RBM44,SCLY,ESPNL,KLHL30,ILKAP,HES6,TRAF3IP1,ASB1,TWIST2,OTOS,GPC1,RNPEPL1,CAPN10,GPR35,AQP12B,AQP12A,AGXT,MAB21L4,MTERF4,PASK,ANO7,SEPTIN2,STK25,BOK-AS1,THAP4,ATG4B,DTYMK,D2HGDH,GAL3ST2,NEU4,LINC01880,SH3BP4,IQCA1,COL6A3,MLPH,LRRFIP1,RAMP1,PER2,LINC01107,LINC01937,NDUFA10,ANKMY1,KIF1A,CROCC2,SNED1,HDLBP,FARP2,BOK,ING5,LINC01237,LINC01881,AGAP1,UBE2F,UBE2F-SCLY,HDAC4,PPP1R7
Controls
No Control Data Available
No Animal Model Data Available