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3p14.1-p13CNV Type: Deletion


Largest CNV size: 5346900 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
FOXP1-related intellectual disability syndrome: a recognisable entity.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 5126520
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 5097920
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 4252188
 1
 0
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 5122308
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 5346900
 1
 0
 1
 meerschaut_17_ID_discovery_cases
 Previously unreported cases with de novo deletions affecting the FOXP1 gene
 11
 10/11 cases presented with intellectual disability (ID), motor delay, and delayed speech and language development, 5/11 cases presented with autistic features. One case (patient 9) died due to complications from diaphragmatic hernia at age of 5 months.
 Range, 5 mos.-10 yrs.
 72.72% Male
 6976817
 3
 0
 3
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 4495254
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 5132749
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 5290999
 1
 0
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 5300771
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 5126520
 0
 0
 0
 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
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 meerschaut_17_ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 qPCR
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  girirajan_11_ASD_discovery_cases-Si140
 12
 M
 Autism
 ADOS score: 10. Vineland composite score: 64.
 No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
 67143086
 72270879
  5127794
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-12032.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 67093284
 72192477
  5099194
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12032.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 67528131
 71781592
  4253462
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-12032.p1
 NA
 M
 ASD
 NA
 NA
 67086354
 72209934
  5123581
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0181-004
 NA
 M
 ASD
 moderate language delay, speech unintelligibility, and repetitive behavior, severe dysmorphism
 IQ/LOF 78
 65325585
 70501359
  5175775
 GRCh38
 Deletion
 Yes
  meerschaut_17_ID_discovery_cases-patient10
 4 yrs.
 M
 Intellectual disability and autistic features
 Case also present in DECIPHER database (DECIPHER ID 260107). Birth/neonatal history: born at term with a birth weight of 2770 g (-1.94 SD), length of 51 cm (-0.65 SD), and head circumference of 33 cm (-2 SD). Developmental milestones: severe motor delay, delayed speech and language development (absent speech), expressive language delay. Language and communication evaluation: absent speech, oromotor dysfunction. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity), spasticity/contractures; clinodactyly; bilateral hip dysplasia; bilateral pes planus. Behavioral/psychiatric evaluation: autistic features. Brain imaging: normal. Auditory evaluation: bilateral deafness (cochlear implants). Cardiac evaluation: secundum atrial septal defect. Congenital anomalies: cryptorchidism. Additional medical history: failure to thrive, feeding difficulties. Dysmorphic features: broad forehead, prominent forehead, hypertelorism, downslanting palpebral fissures, short nose, broad nasal tip, pronounced vermillion border, downturned corners of the mouth, chin with horizontal crease, hypoplastic upper ear helix, single palmar crease. Growth parameters: weight <3rd %ile, height <3rd %ile, BMI 25th %ile, head circumference 50th %ile.
 Severe intellectual disability
 66553850
 73531939
  6978090
 GRCh38
 Deletion
 No
  meerschaut_17_ID_discovery_cases-patient11
 5 yrs.
 M
 Intellectual disability
 Case also present in DECIPHER database (DECIPHER ID 272645). Birth/neonatal history: born at term with a birth weight of 3544 g and length of 50.8 cm (head circumference not determined). Developmental milestones: mild/moderate motor delay, delayed speech and language development, expressive language delay. Language and communication evalution: articulation problems. Motor and musculoskeletal evaluation: hypertonia (increased tonicity), spasticity/contractures; bilateral 2/3 toe syndactyly. Brain imaging: normal. Ophthalmological evaluation: strabismus, hypermetropia. Congenital anomalies: bilateral inguinal hernia; bilateral cryptorchidism. Additional medical history: feeding difficulties. Dysmorphic features: broad forehead, prominent forehead, hypertelorism, bent palpebral fissures, ptosis, short nose, broad nasal tip, pronounced nasolabial folds, wide mouth, full lips, prominent chin, chin with horizontal crease, single palmar crease. Growth parameters: weight 10th-25th %ile, height 3rd-10th %ile, BMI 50th %ile; head circumference not determined.
 Mild/moderate intellectual disability
 67841266
 71964120
  4122855
 GRCh38
 Deletion
 No
  meerschaut_17_ID_discovery_cases-patient18
 10 yrs.
 M
 Intellectual disability
 Case also present in DECIPHER database (DECIPHER ID 270887). Birth/neonatal history: born at term with birth weight of 3010 g (length and head circumference at time of birth not determined). Developmental milestones: severe motor delay, delayed speech and language development (absent speech), expressive language delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity), spasticity/contractures. Brain imaging: abnormal. Auditory evaluation: hearing impairment. Cardiac evaluation: secundum atrial septal defect, PS, right ventricular hypertrophy. Congenital anomalies: inguinal hernia, congenital absence of foreskin, bilateral cryptorchidism, obstipation. Additional medical history: feeding difficulties. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, downslanting palpebral fissures, ptosis, blepharophimosis, short nose, pronounced vermillion border, downturned corners of the mouth, prominent chin. Growth parameters: weight <3rd %ile, height <3rd %ile, BMI 10th %ile, head circumference <3rd %ile.
 Severe intellectual disability
 66617625
 73199155
  6581531
 GRCh38
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_52
 9 yrs.
 F
 Intellectual disability
 Additional clinical information N/A
 Intellectual disability
 66540937
 71037463
  4496527
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 67090158
 72224180
  5134023
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case1-0181-004
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: Query ADHD; Hearing loss in left ear - fitted for hearing device
 
 65279826
 70507349
  5227524
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0181-004
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 65276692
 70513986
  5237295
 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
 girirajan_11_ASD_discovery_cases-Si140
 
 
 De novo
 Simplex
 
 MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,LINC00870,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,RN7SL271P,LINC00877,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1
 
 girirajan_13a_ASD_discovery_cases-12032.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,LINC00870,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,RN7SL271P,LINC00877,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1
 
 krumm_15_ASD_discovery_cases-case12032.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1
 
 levy_11_ASD_discovery_cases-12032.p1
 aCGH (Agilent 244K)
 
 De novo
 Simplex
 Segregated
 MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,LINC00870,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,RN7SL271P,LINC00877,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1
 
 marshall_08_ASD_discovery_cases-SK0181-004
 qPCR, qmPCR
 
 De novo
 Simplex-CHR
 NA
 ILF2P1,RPL17P17,RNU6-787P,RN7SL482P,RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,MAGI1-AS1,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,MAGI1,MAGI1-IT1,SLC25A26,LRIG1,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,FAM19A1,FRMD4B,SAMMSON,MDFIC2
 
 meerschaut_17_ID_discovery_cases-patient10
 
 
 De novo
 
 
 RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,RNU1-62P,RNA5SP136,PSMD12P,LAPTM4BP2,FTH1P23,RNU7-19P,EBLN2,RNU6-557P,RNU2-64P,CCDC75P1,RNU6-1270P,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,LINC00870,RYBP,SHQ1,GXYLT2,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,RN7SL271P,LINC00877,PPP4R2,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1,PDZRN3
 
 meerschaut_17_ID_discovery_cases-patient11
 
 
 De novo
 
 
 COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,RN7SL271P,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1
 
 meerschaut_17_ID_discovery_cases-patient18
 
 
 De novo
 
 
 RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,RNU1-62P,RNA5SP136,PSMD12P,LAPTM4BP2,FTH1P23,RNU7-19P,EBLN2,RNU6-557P,RNU2-64P,CCDC75P1,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,LINC00870,RYBP,SHQ1,GXYLT2,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,RN7SL271P,LINC00877,PPP4R2,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1
 
 quintela_17_DD/ID_discovery_cases-caseID_52
 
 
 De novo
 
 Possibly segregated
 RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1
 
 sanders_11_ASD_discovery_cases-12032.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,COX6CP6,HMGB1P36,RNU6-281P,MIR1284,FOXP1-IT1,GPR27,UBE2Q2P9,EOGT,TMF1,ARL6IP5,LMOD3,PROK2,LINC00870,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,EIF4E3,RN7SL271P,LINC00877,FAM19A1,FRMD4B,SAMMSON,MDFIC2,FOXP1,FOXP1-AS1
 
 yuen_17_ASD_discovery_cases-case1-0181-004
 Affymetrix CytoScan HD
 
 De novo
 Simplex
 Segregated
 ILF2P1,RPL17P17,RNU6-787P,RN7SL482P,RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,MAGI1-AS1,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,MAGI1,MAGI1-IT1,SLC25A26,LRIG1,SUCLG2,SUCLG2-AS1,FAM19A4,UBA3,MITF,FAM19A1,FRMD4B,SAMMSON,MDFIC2
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0181-004
 RT-qPCR or WGS
 
 De novo
 
 
 ILF2P1,RPL17P17,RNU6-787P,RN7SL482P,RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,RBM43P1,RN7SL418P,UQCRHP4,MAGI1-AS1,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,MAGI1,MAGI1-IT1,SLC25A26,LRIG1,SUCLG2,SUCLG2-AS1,TAFA4,UBA3,MITF,TAFA1,FRMD4B,SAMMSON,MDFIC2
 null

Controls

No Control Data Available
No Animal Model Data Available
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