2p16.1-p15CNV Type: Deletion
Largest CNV size: 5700000 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Deletion
Phenomic determinants of genomic variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Duplication
Comorbidities associated with genetic abnormalities in children with intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bagheri_16_DD/ID_discovery_cases
Eight novel cases with 2p16.1-p15 microdeletion syndrome
8
All eight cases presented with developmental delay (7/8 with intellectual disability, 7/8 with delayed language skills, 6/8 with microcephaly)
Range, 1 yr. 8 mos.-16 yrs.
87.50% Male
9574442
4
0
4
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
2979827
1
0
1
chen_21_ASD/DD/ID_discovery_cases
Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
61
Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
Range, 3-18 yrs. (median, 6 yrs.)
60.7% Male
781223
0
1
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
3500000
0
9
9
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
1489157
0
1
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
5735614
5
1
6
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
5131177
1
0
1
qiao_09_ASD_discovery_cases
Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
100
ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
Range, 2-40 yrs.
76% Male
7900000
2
0
2
rajcan-separovic_07_ASD_discovery_cases
ASD probands in Canadian Institute for Health Research (CIHR)-funded study to identify CNVs in individuals with idiopathic ID and/or ASD in collaboration with HEIDI & ASD-CARC
2
1 case diagnosed with ASD (DSM-IV criteria, confirmed by ADOS-G), 1 with intellectual disability & developmental delay (did not meet DSM-IV or ADOS-G criteria for an ASD). Both cases have ADHD or attention deficits.
Range, 6-8 yrs.
50% Male
5700000
2
0
2
saia_23_TS_discovery_cases
Patients with a clinical diagnosis of Tourette syndrome enrolled between April 2021 and April 2022 (Child and Adolescent Neurology and Psychiatry of the Medical and Experimental Department, Catania University).
93
Cases were diagnosed with Tourette syndrome (TS) according to DSM-5 criteria; symptoms of TS were evaluated with the Yale Global Tic Severity Rating Scale (YGTSS). Co-morbidities included intellectual disability, obsessive compulsive disorder (OCD), oppositional defiant disorder (ODD), ADHD, and ASD.
Mean age, 12.1 +/- 3.1 yrs.
76.3% Male
1736183
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
3500000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1304193
0
1
1
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
bagheri_16_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix CytoScan 750K, Affymetrix Cytogenetics Whole-Genome 2.7M, Affymetrix 6.0, Signature Genomics SignatureChipOSTM
Microsatellite analysis
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
chen_21_ASD/DD/ID_discovery_cases
Taiwan
CMA
CytoOne Array (Phalanx Biotech)
CBS
MATLAB v.R2009a
None
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
qiao_09_ASD_discovery_cases
NA
aCGH
BACs aCGH
FISH, qPCR, array SNP (Affymetrix 6.0)
rajcan-separovic_07_ASD_discovery_cases
1 Caucasian, 1 mixed Chinese-Caucasian
aCGH
BACs aCGH (1-Mb resolution BAC array)
Spectralware 2
FISH
saia_23_TS_discovery_cases
Italy
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.11.5, Agilent Genomic Workbench v.7.0.4.0.
MLPA, RT-PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
bagheri_16_DD/ID_discovery_cases-case1
4 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: intrauterine growth retardation (IUGR); postnatal growth retardation, feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia, other neuromotor deficits; abnormal curvature of the spine; camptodactyly, other digital anomalies. Behavioral/psychiatric evaluation: autism/autistic features, other unspecified behavioral abnormalities. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: structural brain abnormalities detected by neuroimaging; cortical dysplasia on cranial MRI. Vision evaluation: strabismus. Additional medical history: abnormal fetal hemoglobin and additional hematologic features; immunologic abnormalites; unspecified thoracic abnormalities (pecuts, hernia, reflux); stomach abnormalities. Dysmorphic features: bitemporal narrowing, receding short forehead, metopic prominence or craniosynostosis, abnormal head shape, epicanthal folds, short palpebral fissures, downslanting palpebral fissures, ptosis, hypertelorism, bilateral tear duct obstruction or absence, long and straight eyelashes, long and thin eyebrows, abnormal nasal root (broad/high or other), large and dysplastic ears, smooth and long philtrum, everted lower lip, thin upper lip vermillion, high narrow palate, dental abnormalities (malocclusion), hair abnormalities. Growth parameters: microcephaly; weight 3rd-10th %ile, OFC <3rd %ile.
Developmental delay/intellectual disability
55448963
65023407
9574445
GRCh38
Deletion
No
bagheri_16_DD/ID_discovery_cases-case3
3 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: intrauterine growth retardation (IUGR); feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: camptodactyly. Vision evaluation: strabismus. Additional medical history: other unspecified neurological abnormalities. Dysmorphic features: bitemporal narrowing, receding short forehead, epicanthal folds, short palpebral fissures, downslanting palpebral fissures, ptosis, telecanthus, hypertelorism, long and straight eyelashes, long and thin eyebrows, abnormal nasal root (broad/high or other), smooth upper vermillion border, thin upper lip vermillion, retrognathia. Growth parameters: microcephaly; height 3rd-10th %ile, OFC <3rd %ile.
Developmental delay/intellectual disability
58790109
64152539
5362431
GRCh38
Deletion
Yes
bagheri_16_DD/ID_discovery_cases-case4
1 yr. 10 mos.
F
Developmental delay/intellectual disability
Birth/neonatal history: feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia; camptodactyly. Behavioral/psychiatric evaluation: unspecified behavioral abnormalities. Additional medical history: frequent ear infections, unspecified thoracic abnormalities (pectus, hernia, reflux), unspecified cardiac defect, unspecified genital abnormality, unspecified urinary system abnormality. Dysmorphic features: epicanthal folds, high narrow palate, retrognathia, cleft lip/palate, widely spaced nipples.
Developmental delay/intellectual disability
60423454
61394496
971043
GRCh38
Deletion
No
bagheri_16_DD/ID_discovery_cases-case5
16 yrs.
M
Developmental delay/intellectual disability
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: abnormal curvature of the spine. Behavioral/psychiatric evaluation: attention deficit behavior. Additional medical history: frequent ear infections. Dysmorphic features: ptosis. Growth parameters: microcephaly; OFC <3rd %ile.
Developmental delay/intellectual disability
60833552
65426245
4592694
GRCh38
Deletion
No
calderoni_20_ASD_discovery_cases-caseP19
7 yrs. 3 mos.
F
ASD
ADOS module 1 evaluation; Social Affect score 7, Restricted and Repetitive Behaviors socre 6, Calibrated Severity Score 6. Language and communication evaluation: verbal.
IQ 70
58339481
61319307
2979827
GRCh38
Deletion
Yes
chen_21_ASD/DD/ID_discovery_cases-case27
NA
NA
Developmental delay/intellectual disability
Developmental delay/intellectual disability
Developmental delay/intellectual disability
60757027
61538249
781223
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case502
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case503
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case504
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case505
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case506
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case507
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case508
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case509
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case510
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
59419361
62919361
3500001
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case17D810
5 mos. 7 days
F
Developmental delay
59887308
61376464
1489157
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000813
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
59658846
62336083
2677238
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001990
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
57249378
61842734
4593357
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002699
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56738054
62473668
5735615
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004239
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
60803569
61070455
266887
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004609
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
60009106
62006709
1997604
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005123
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
59224998
61621710
2396713
GRCh38
Deletion
Yes
miyake_23_ASD_discovery_cases-case6347
NA
F
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
55917590
61048766
5131177
GRCh38
Deletion
Yes
qiao_09_ASD_discovery_cases-case1
Range, 11-15
F
Autism
Phenotype Score: 7. Growth parameters: microcephaly (OFC <2nd %ile), prenatal growth retardation. Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies. Seizures: none.
Severe intellectual disability (IQ between 20 & 35)
56773497
62885669
6100000
Unknown
Deletion
Yes
qiao_09_ASD_discovery_cases-case2
Range, 6-10
M
PDD-NOS
Phenotype Score: 6. Epilepsy. Growth parameters: postnatal growth retardation, microcephaly (OFC <2nd %ile). Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies.
Severe intellectual disability (IQ between 20 & 35)
55481143
63372980
7900000
Unknown
Deletion
Yes
rajcan-separovic_07_ASD_discovery_cases-subject1
8
F
ASD
Diagnosis of ASD based on DSM-IV criteria, confirmed by ADOS-G (module 1) testing. Severely delayed receptive & expressive language. Attention deficit hyperactivity disorder (ADHD). Additional neurological & neurodevelopmental features: normal hearing & EEG testing, spasticity of lower extremities, unsteady gait/balance, pseudobulbar palsy with dysarthria, facial diplegia, drooling. Brain MRI reveals bilateral perisylvian cortical dysplasia. Transient postnatal growth retardation. Feeding problems (poor sucking/swallowing, GI reflux, failure to thrive). Growth parameters: height & weight 75-90 %ile; OFC <<2 %ile. Mild visual impairment due to optic nerve hypoplasia & perisylvian migration disorder. Dysmorphic features & congenital anomalies include: microcephaly, brachycephaly, bitemporal narrowing, flattened occiput, facial assymetry, prominent nasal bridge and tip, widened inner canthal distance (ICD), telecanthus, strabismus, short palpebral fissures, ptosis, smooth philtrum, high palate, bruxism, everted lowed lip, bilateral camptodactyly of digits 3-5, metatarsus abductus, non-functional left multicystic kidney. Paternal medical history of X-linked ichthyosis due to steriod sulphatase deficiency.
Moderately severe global developmental delay, moderate intellectual disability
57119361
61619361
4500001
GRCh38
Deletion
Yes
rajcan-separovic_07_ASD_discovery_cases-subject2
6
M
Developmental delay & intellectual disability
Autistic features (not meeting DSM-IV or ADOS-G criteria for an ASD). Severely delayed receptive & expressive language skills. Attention deficits. Moderate adaptive delay. Additional neurodevelopmental features: bilateral sensorineural hearing loss, EEG findings of disorganized background activity with mid/left frontal/occipital spike waves, spasticity of lower extremities, unsteady gait/balance. Mild visual impairment due to hyperopia & optic nerve hypoplasia. Brain MRI shows enlarged 4th ventricle, mild hypoplasia of inferior cerebellar vermis, small anterior pituitary and pons, thickening of cortex & hyperintense subcortical tissue (suggestive of demyelination or cortical dysplasia). Postnatal growth retardation & feeding problems. Growth parameters: Height <3 %ile; weight 5-10 %ile; OFC <<2 %ile. Dysmorphic features & congenital anomalies include: microcephaly, brachycephaly, bitemporal narrowing, flattened occiput, prominent metopic suture, high palate, prominent nasal bridge & tip, widended inner canthal distance (ICD), telecanthus, strabismus, ptosis, short palpebral fissures, bilateral camptodactyly of 5th digit, metatarsus abductus, bilateral 2nd/3rd toe syndactyly, left hydronephrosis (suggestive of obstruction or reflux), hypoplastic genitalia, hypothalamic hypogonadism.
Moderate intellectual disability, global developmental delay
55919361
61619361
5700001
GRCh38
Deletion
Yes
saia_23_TS_discovery_cases-case1
NA
M
Tourette syndrome, OCD, and intellectual disability
Case diagnosed with Tourette syndrome (YGTSS score 12). Motor and musculoskeletal evaluation: 5-inch finger-like thumbs, 5th finger clinodactyly, bilateral 2-3 toe syndactyly. Behavioral/psychiatric evaluation: obsessive compulsive disorder (OCD), behavior disorder. Additional medical history: headache, adipose tissue significantly represented. Dysmorphic features: small forehead, thick and horizontal eyebrows, low-set ears, hypoplasia of the tragus, short and flat nasal filter, ogival palate.
Mild intellectual disability
60066968
61803150
1736183
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB471032_1007842234
N/A
N/A
Control
No previous psychiatric history
60090923
61395116
1304194
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bagheri_16_DD/ID_discovery_cases-case1
De novo
RNU6-775P,RNU6-221P,RNU6-634P,RN7SKP208,MIR217,MIR216A,MIR216B,RNA5SP93,PPIAP63,ACTG1P22,EIF3FP3,RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,OTX1,DBIL5P2,RPS4XP5,HNRNPA1P66,MIR4433B,MIR4433A,RPL23AP37,MIR4434,RNU6-100P,LINC02579,RN7SL341P,LINC02245,RN7SL211P,RNU6-548P,CFAP36,PNPT1,EFEMP1,LINC01813,LINC01795,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MDH1,UGP2,LINC00309,LGALSL-DT,LGALSL,AFTPH,LINC01800,MIR217HG,CCDC85A,VRK2,FANCL,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,WDPCP,PELI1,LINC01805,SERTAD2,PPP4R3B,EHBP1,VPS54,SLC1A4,LINC01122
bagheri_16_DD/ID_discovery_cases-case3
Microsatellite analysis
De novo, paternal allele deleted
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,OTX1,DBIL5P2,RPS4XP5,HNRNPA1P66,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MDH1,UGP2,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,WDPCP,PELI1,EHBP1,VPS54,LINC01122
Reduced XPO1, REL, and BCL11A protein levels observed in patient LCLs (Western blotting)
bagheri_16_DD/ID_discovery_cases-case4
De novo
RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,MIR4432HG,PUS10,KIAA1841,USP34
Reduced REL protein lelvels observed in patient LCLs (Western blotting)
bagheri_16_DD/ID_discovery_cases-case5
De novo
RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,OTX1,DBIL5P2,RPS4XP5,HNRNPA1P66,MIR4433B,MIR4433A,RPL23AP37,MIR4434,RNU6-100P,LINC02579,RN7SL341P,LINC02245,RN7SL211P,RNU6-548P,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MDH1,UGP2,LINC00309,LGALSL-DT,LGALSL,AFTPH,LINC01800,LINC02576,CEP68,RAB1A,ACTR2,PUS10,KIAA1841,USP34,COMMD1,WDPCP,PELI1,LINC01805,SERTAD2,SPRED2,EHBP1,VPS54,SLC1A4
calderoni_20_ASD_discovery_cases-caseP19
qPCR
De novo
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,IFITM3P9,RPL26P13,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RPS12P3,RNA5SP95,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34,LINC01122
chen_21_ASD/DD/ID_discovery_cases-case27
Unknown
RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RPS12P3,RNA5SP95,SNORA70B,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,PUS10,USP34,USP34-DT
coe_14_ASD/DD/ID_discovery_cases-case502
De novo
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case503
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case504
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case505
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case506
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case507
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case508
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case509
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
coe_14_ASD/DD/ID_discovery_cases-case510
Unknown
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,EHBP1
han_22_ASD/DD/ID_discovery_cases-case17D810
Unknown
ATP1B3P1,BCL11A,PAPOLG,SANBR,RPL26P13,AHSA2P,PUS10,RPS12P3,C2orf74,IFITM3P9,RPL21P33,NONOP2,MIR4432,RNA5SP95,PEX13,REL,RN7SL361P,RNU4-51P,RNU1-32P,RNU6-612P,RN7SL632P,MIR4432HG,USP34
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000813
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001990
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ACTG1P22,EIF3FP3,RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,LINC01795,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,VRK2,FANCL,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34,LINC01122
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002699
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PPIAP63,ACTG1P22,EIF3FP3,RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,LINC01795,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,B3GNT2,VRK2,FANCL,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1,LINC01122
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004239
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,LINC01185,REL,PEX13,PUS10,KIAA1841
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004609
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,FAM161A,CCT4,MIR4432HG,PUS10,KIAA1841,USP34,COMMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005123
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34
miyake_23_ASD_discovery_cases-case6347
qPCR
De novo
ATP1B3P1,EFEMP1,BCL11A,FANCL,PAPOLG,RPL26P13,CCDC85A,PUS10,RPS12P3,EIF3FP3,LINC01122,MIR217,MIR216A,IFITM3P9,EIF2S2P7,MIR216B,ACTG1P22,RPL21P33,NONOP2,MIR4432,RNA5SP95,RNA5SP94,RNA5SP93,LINC01813,LINC01793,PEX13,REL,MIR217HG,LINC01795,RN7SL361P,VRK2,RNU4-51P,RNU1-32P,RNU6-508P,RNU6-612P,RN7SL632P,RN7SKP208,MIR4432HG,PPIAP63
qiao_09_ASD_discovery_cases-case1
FISH; qPCR; Array SNP (Affy 6.0)
De novo
Simplex
VRK2,FANCL,BCL11A,PAPOLG,REL,PUS10,PEX13,KIAA1841,C2orf74,AHSA2,USP34,XPO1,FAM161A,CCT4,COMMD1,B3GNT2,TMEM17,EHBP1
qiao_09_ASD_discovery_cases-case2
FISH; qPCR; Array SNP (Affy 6.0)
De novo
Simplex
CCDC88A,CCDC104,SMEK2,PNPT1,EFEMP1,CCDC85A,VRK2,FANCL,BCL11A,PAPOLG,REL,PUS10,PEX13,KIAA1841,C2orf74,AHSA2,USP34,XPO1,FAM161A,CCT4,COMMD1,B3GNT2,TMEM17,EHBP1,OTX1,WDPCP
rajcan-separovic_07_ASD_discovery_cases-subject1
FISH
De novo
Unknown
NA
ACTG1P22,EIF3FP3,RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,LINC01795,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,VRK2,FANCL,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34,LINC01122
rajcan-separovic_07_ASD_discovery_cases-subject2
FISH
De novo
Unknown
NA
RN7SKP208,MIR217,MIR216A,MIR216B,RNA5SP93,PPIAP63,ACTG1P22,EIF3FP3,RNU6-508P,RNA5SP94,RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,SNORA70B,RPS29P10,RNU6-1145P,EFEMP1,LINC01813,LINC01795,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,XPO1,MIR217HG,CCDC85A,VRK2,FANCL,LINC01793,MIR4432HG,PUS10,KIAA1841,USP34,LINC01122
saia_23_TS_discovery_cases-case1
MLPA, RT-PCR
De novo
ATP1B3P1,BCL11A,PAPOLG,SANBR,RPL26P13,AHSA2P,PUS10,RPS12P3,C2orf74,IFITM3P9,SNORA70B,RPS29P10,RPL21P33,RPS24P7,NONOP2,MIR4432,RNA5SP95,PEX13,REL,USP34-DT,RN7SL361P,RNU4-51P,RNU1-32P,RNU6-612P,RN7SL632P,MIR4432HG,RNU6-1145P,XPO1,USP34
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB471032_1007842234
Unknown
RNU1-32P,MIR4432,RN7SL361P,RNU6-612P,RN7SL632P,RPL21P33,RNU4-51P,NONOP2,RNA5SP95,BCL11A,ATP1B3P1,PAPOLG,LINC01185,REL,PEX13,C2orf74,AHSA2P,MIR4432HG,PUS10,KIAA1841,USP34
No Animal Model Data Available