Xp22.12CNV Type: Deletion-Duplication
Largest CNV size: 390201 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
295984
0
1
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
238094
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
394797
1
3
4
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
130964
0
1
1
higa_21_ASD/ADHD/DD/ID/EP_discovery_cases
9-year-old male patient presenting with a maternally-inherited Xp22.12 deletion affecting the CNKSR2 gene described through an active family support group (the CNKSR2 Family Support Group)
1
Case was diagnosed with autism and ADHD and presented with developmental delay, intellectual disability, and diagnosis of Landau Kleffner syndrome.
9 yrs.
Male
400312
1
0
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
168471
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
948952
1
3
4
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
109301
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
35000
1
0
1
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases
Affected members of a family presenting with mild intellectual disability, ADHD, localization-related epilepsy, and other behavioral phenotypes
4
Intellectual disability (ID; 2 cases), epilepsy (EP; 2 cases), ADHD (2 cases), and pervasive developmental disorder (PDD; 1 case)
Range, 4-15 yrs.
75% Male
584000
0
4
4
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
390201
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
394798
1
1
2
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
187058
1
0
1
sanchis_juan_23_ASD/DD/ID_discovery_cases
Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
489
73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
NA
NA
192
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
5129
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
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
667788
1
1
2
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
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
higa_21_ASD/ADHD/DD/ID/EP_discovery_cases
N/A
N/A
N/A
N/A
N/A
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
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
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases
Japan
aCGH
Agilent 180K
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
sanchis_juan_23_ASD/DD/ID_discovery_cases
United Kingdom
Short-read WGS
Illumina HiSeq 2500/Illumina HiSeq X
Canvas v.1.1.0.5, Manta v.0.23.15
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
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
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case22
11 yrs.
F
Speech delay
Birth/neonatal history: uneventful prenatal period; birth weight 10th %ile, length 10th %ile, OFC 10th %ile. Developmental milestones: speech delay. Visual evaluation: myopia. Family history: mother had motor delay in infancy.
20162712
20458695
295984
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_cases-caseAB148
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
19613435
19851528
238094
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14189_3130
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21372286
21631874
259589
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17031_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19522930
19917727
394798
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5521_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19543099
19933299
390201
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6161_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
19411501
19581746
170246
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D1975
4 yrs. 8 mos.
M
Developmental delay/Intellectual disability
19440755
19571718
130964
GRCh38
Duplication
No
higa_21_ASD/ADHD/DD/ID/EP_discovery_cases-caseFam7
9 yrs.
M
ASD, ADHD, developmental delay, intellectual disability, and epilepsy/seizures
Birth/neonatal history: small for gestational age (birth weight 2.93rd %ile). Developmental milestones: delayed ability to walk (2 years); absence of toilet training; speech delay (minimally verbal with only a few single words). Behavioral/psychiatric evaluation: sleep disturbance (very restless sleep), hyperactivity (diagnosis of ADHD), diagnosis of autism. Epilepsy/seizures: tonic-clonic seizures with onset at 8 months; diagnosis of Landau Kleffner syndrome. EEG: abnormal EEG (clusters of seizures). Brain imaging: report of abnormal brain MRI in the past. Additional medical history: feeding difficulties (feeding tube). Family history: carrier mother had no history of seizures or neurodevelopmental disorders.
Intellectual disability
21260278
21660589
400312
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case54
5 yrs. 10 mos.
F
Developmental delay/intellectual disability and autism
Autism, Rett syndrome-like phenotype. Karyotype: 1phqh.
Developmental delay/intellectual disability
19612816
19781287
168472
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001981
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20253700
20351706
98007
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002083
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19624798
20573750
948953
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002538
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19878110
20395102
516993
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005261
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19677033
19881974
204942
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0683
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
21316367
21425667
109301
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseDV95
NA
F
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: GTCS. Autistic features: No. ADHD features: Yes. Other features: Periventricular white-matter atrophy.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 66, performance IQ 57 (at 4 years of age).
21505555
21540211
34657
GRCh38
Deletion
Yes
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10
4 yrs.
M
ADHD
Behavioral/psychiatric evaluation: presented with ADHD. Family history: mother diagnosed with depression, no history of learning disorder; sibling with pervasive developmental disorder (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9); two maternal half-siblings with mild ID and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6 and matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7).
Borderline developmental level (Kyoto Scale of Psychological Development)
19897277
20480843
583567
GRCh38
Duplication
No
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6
15 yrs.
M
ID, ADHD, and epilepsy
Developmental milestones: started walking alone at age of 17 months and speaking few words at age of 18 months. Behavioral/psychiatric evaluation: diagnosed with ADHD according to DSM-IV; had difficulty remaining seated and concentrating on task completion during class, sometimes suffered panic attacks. Epilepsy/seizures: complex partial seizure at age of 13 years; diagnosed with localization-related epilepsy (attacks well-controlled by sodium valproate). EEG: sporadic spikes in right temporal area. Dysmorphic features: none. Family history: mother diagnosed with depression, no history of learning disorder; sibling with mild ID and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7); two maternal half-siblings with pervasive developmental disorder (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9) and ADHD and borderline IQ (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10).
Mild intellectual disability (ID); IQ of 63 at age of 6 years (Binet Intelligence Scales, 5th ed.)
19897277
20480843
583567
GRCh38
Duplication
No
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7
13 yrs.
M
ID and epilepsy
Epilepsy/seizures: complex partial seizure, successful treatment with valproate. EEG: right centrotemporal spikes. Family history: mother diagnosed with depression, no history of learning disorder; sibling with mild ID, ADHD, and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6); two maternal half-siblings with pervasive developmental disorder (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9) and ADHD and borderline IQ (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10).
Mild intellectual disability (ID); IQ of 52 at age of 10 years (Wechsler Intelligence Scale for Children-3rd edition/WISC-III)
19897277
20480843
583567
GRCh38
Duplication
No
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9
6 yrs.
F
PDD
Behavioral/psychiatric evaluation: fulfilled DSM-IV criteria for pervasive developmental disorder (PDD); difficulty with social interaction in kindergarten and showed restricted interests. Family history: mother diagnosed with depression, no history of learning disorder; sibling with ADHD and borderline IQ (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10); two maternal half-siblings with mild ID and epilepsy (matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6 and matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7).
19897277
20480843
583567
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5521_3
NA
M
Autism
Nonverbal, seizure disorder, coarse facial features
Below average IQ (<1%ile)
19543099
19933299
390201
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case17031_1
5 yrs. 8 mos.
M
ASD
Autism (based on ADI-R and ADOS), language delay, verbal; physical examination at 5 y 8 mo revealed no dysmorphic features, neurological examination was normal except for a deficit in coordination and gross and fine motor development; no seizures, normal sleep EEG. Family history: mother unaffected; negative family history of neuropsychiatric disorders
VIQ 79; Vineland: Communication 21, Daily Living Skills 47, Socialization 38, Adaptive Behavior Composite 32
19522930
19917727
394798
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case9900_203
N/A
M
ASD
Autism (meets criteria on ADI-R and ADOS), language delay (first words 18 mo, first phrases 42 mo), limited language, strabismus (like his mother), normal physical exam, no dysmorphic features, no epilepsy. Family history: mother unaffected.
Moderate ID (Bayley Scales of Infant Development II, mental developmental index 45)
19468077
19581746
113670
GRCh38
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_166
12 yrs.
F
Developmental delay/intellectual disability
Patient originally reported in Quintela et al., 2015a
20155738
20342795
187058
GRCh38
Deletion
No
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG002683
NA
F
Developmental delay
Patient was of European ancestry and presented with neurodegeneration and developmental delay.
20153736
20153927
192
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11811.p1
16.9
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 80
20030829
20035958
5130
GRCh38
Deletion
No
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-control110036020873_
N/A
N/A
Control
No previous psychiatric history
19782690
19818075
35386
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB939437_1007874465
N/A
N/A
Control
No previous psychiatric history
21013311
21681099
667789
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case22
Maternal
Unknown
RN7SKP183,RPS6KA3
bacchelli_20_ASD_discovery_cases-caseAB148
qPCR
Maternal
Simplex
SH3KBP1
engchuan_15_ASD_discovery_cases-case14189_3130
Unknown
RARRES2P3,CNKSR2
engchuan_15_ASD_discovery_cases-case17031_1
Unknown
SH3KBP1,BCLAF3
engchuan_15_ASD_discovery_cases-case5521_3
Unknown
SH3KBP1,BCLAF3
engchuan_15_ASD_discovery_cases-case6161_3
Unknown
EIF5P2,MAP3K15,SH3KBP1
han_22_ASD/DD/ID_discovery_cases-case16D1975
Unknown
SH3KBP1,MAP3K15,EIF5P2
higa_21_ASD/ADHD/DD/ID/EP_discovery_cases-caseFam7
Maternal
KLHL34,RARRES2P3,CNKSR2
iourov_12_ASD/ID/EP_discovery_cases-case54
Unknown
Unknown
Unknown
SH3KBP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001981
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS6KA3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002083
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,SH3KBP1,MAP7D2,RPS6KA3,BCLAF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002538
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR23C,EIF1AX-AS1,EIF1AX,SH3KBP1,MAP7D2,RPS6KA3,BCLAF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005261
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SH3KBP1
kushima_22_SCZ_discovery_cases-caseSCZ0683
qRT-PCR
Unknown
RARRES2P3,CNKSR2
lesca_12_EP_discovery_cases-caseDV95
qPCR
Unknown
Unknown
Unknown
CNKSR2
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-10
Possibly maternal (mother with depression, but no history of learning disabilities)
Maternal
Multiplex
Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
Increased RPS6KA3 protein expression relative to controls (determined by Western blot analysis)
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-6
Possibly maternal (mother with depression, but no history of learning disabilities)
Maternal
Multiplex
Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
Increased RPS6KA3 protein expression relative to controls (determined by Western blot analysis)
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-7
Possibly maternal (mother with depression, but no history of learning disabilities)
Maternal
Multiplex
Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
Increased RPS6KA3 protein expression relative to controls (determined by Western blot analysis)
matsumoto_13_ID/EP/ADHD/PDD_discovery_cases-caseIV-9
Possibly maternal (mother with depression, but no history of learning disabilities)
Maternal
Multiplex
Incomplete segregation [4 affected individuals (3 male/1 female); 2 carrier females]
MIR23C,EIF1AX-AS1,RN7SKP183,EIF1AX,MAP7D2,RPS6KA3,BCLAF3
pinto_10_ASD_discovery_cases-case5521_3
qPCR-Maternal
maternal
Simplex
NA
SH3KBP1,BCLAF3
pinto_14_ASD_discovery_cases2-case17031_1
qPCR
Maternal (X-linked in a male)
Simplex
(not tested)
SH3KBP1,BCLAF3
pinto_14_ASD_discovery_cases2-case9900_203
qPCR
Maternal (X-linked in a male)
Simplex
(not tested)
EIF5P2,MAP3K15,SH3KBP1
quintela_17_DD/ID_discovery_cases-caseID_166
Unknown (not maternal)
Unknown
RPS6KA3
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG002683
Unknown
Simplex
RPS6KA3
sanders_11_ASD_discovery_cases-11811.p1
Maternal
Simplex (trio)
NA
MAP7D2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020873_
Unknown
SH3KBP1
engchuan_15_ASD_discovery_controls-controlB939437_1007874465
Unknown
RNU6-133P,RARRES2P3,KLHL34,CNKSR2
No Animal Model Data Available