3p14.1-p13CNV Type: Deletion
Largest CNV size: 5346900 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
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
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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
Severe speech impairment is a distinguishing feature of FOXP1-related disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
braden_21_ASD/ADHD/DD/ID_discovery_cases
Individuals with pathogenic FOXP1 deletions that were identified in the Victorian Clinical Genetics Services database or referred by their clinician from December 2017 to May 2020.
6
All six cases presented with developmental delay, 3 presented with intellectual disability (non-verbal intelligence measured using Wechsler Abbreviated Scale of Intelligence, Second Edition), and one case each was diagnosed with autism spectrum disorder and ADHD.
Range, 2-15 yrs.
33.33% Male
5757069
3
0
3
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
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
braden_21_ASD/ADHD/DD/ID_discovery_cases
Australia
CMA
NA
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
braden_21_ASD/ADHD/DD/ID_discovery_cases-case26
2 yrs.
M
Developmental delay
Visual impairment, global developmental delay, developmental coordination disorder, sensorineural hearing loss, gross motor delay, fine motor delay, speech delay (minimally verbal with first words and short sentences not yet achieved; low expressive and receptive language abilities on the Vineland Adaptive Behavior Scales), low social skills on the Vineland Adaptive Behavior Scales.
69364723
71145003
1780281
GRCh38
Deletion
No
braden_21_ASD/ADHD/DD/ID_discovery_cases-case27
3 yrs. 3 mos.
F
Developmental delay
Visual impairment, global developmental delay, sensorineural hearing loss, gross motor delay, fine motor delay, speech delay (minimally verbal with first words and short sentences not yet achieved; low expressive and receptive language abilities and moderate low written language ability on the Vineland Adaptive Behavior Scales), low social skills on the Vineland Adaptive Behavior Scales.
67611835
73368903
5757069
GRCh38
Deletion
No
braden_21_ASD/ADHD/DD/ID_discovery_cases-case28
6 yrs.
F
Developmental delay and intellectual disability
Visual impairment, sensorineural hearing loss, gross motor delay, fine motor delay, speech delay (first words at 12-15 months and short sentences at 4-5 years), speech articulation errors, speech phonological errors, features of dysarthria (marked articulation deficits, marked prosody deficits, moderate resonance deficits, mild voice deficits), features of speech apraxia.
Mild intellectual disability (PIQ 67)
64405778
71478466
7072689
GRCh38
Deletion
No
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
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
braden_21_ASD/ADHD/DD/ID_discovery_cases-case26
De novo
FOXP1,UQCRHP4,MITF,RBM43P1,COX6CP6,HMGB1P36,SAMMSON,RN7SL418P,RNU6-281P,MDFIC2,FRMD4B
braden_21_ASD/ADHD/DD/ID_discovery_cases-case27
De novo
FOXP1,EBLN2,SHQ1,LMOD3,PROK2,TAFA4,PSMC1P1,PPP4R2,LINC00870,GPR27,PSMD12P1,EIF4E3,LINC00877,GPATCH11P1,EOGT,COPS8P2,TAFA1,CCDC137P,GXYLT2,UQCRHP4,MITF,RNU7-19P,RBM43P1,COX6CP6,MIR1284,FTH1P23,HMGB1P36,MIR3136,FOXP1-IT1,RNA5SP136,RNA5SP135,SAMMSON,FOXP1-AS1,RN7SL271P,TMF1,UBE2Q2P9,RNU6-557P,RN7SL418P,RNU6-281P,LAPTM4BP2,RNU6-1270P,RNU1-62P,RNU2-64P,MDFIC2,SUCLG2,UBA3,ARL6IP5,RYBP,FRMD4B
braden_21_ASD/ADHD/DD/ID_discovery_cases-case28
De novo
FOXP1,LMOD3,ADAMTS9,KBTBD8,SLC25A26,TAFA4,PSMC1P1,MAGI1-IT1,PRICKLE2,EOGT,COPS8P2,TAFA1,UQCRHP4,MITF,RBM43P1,RPL21P41,RPL17P17,NDUFB4P1,COX6CP6,ILF2P1,HMGB1P36,MIR3136,MIR4272,ADAMTS9-AS2,RNA5SP135,MAGI1-AS1,SAMMSON,PRICKLE2-DT,ADAMTS9-AS1,FOXP1-AS1,LINC02040,TMF1,RNU6-787P,RNU6-739P,RN7SL418P,RNU6-281P,RN7SL482P,MDFIC2,SUCLG2,MAGI1,UBA3,ARL6IP5,LRIG1,FRMD4B
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