Xq27.3-q28CNV Type: Deletion
Largest CNV size: 254081 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
A maternally-inherited deletion containing the FMR1 gene that segregated with disease was identified in an autistic proband from a multiplex family.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Deletion-Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
12678948
0
3
3
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
9641641
1
0
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
254081
1
0
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
3778728
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
10136144
3
0
3
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
4176310
1
0
1
nagamani_12_DD_discovery_cases
Cases with developmental delay and additional phenotypes with CNVs involving the FMR1 gene.
4
All 4 cases with developmental delay (DD) and language delay. 2/4 cases with behavioral abnormalities.
Range, 5-12 yrs.
25% Male
363000
1
2
3
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
622720
1
0
1
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
1960933
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
620000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
254081
0
0
0
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
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
husson_20_ASD_discovery_cases
France
aCGH
Agilent 180K
WES
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
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
nagamani_12_DD_discovery_cases
1 Caucasian, 1 South Asian, 2 unknown
aCGH
Custom-designed array manufactured by Agilent and designed in Medical Genetics Laboratory at BCM
qPCR
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
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
chaves_19_ASD/DD/ID_discovery_cases-case24
N/A
M
Developmental delay
Developmental delay, speech and/or language delay or impairment, facial dysmorphism and obesity. Family history: affected brother with same phenotype and Xq27.3-q28 duplication.
147344117
152436515
5092399
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case25
N/A
M
Developmental delay
Developmental delay, speech and/or language delay or impairment, facial dysmorphism and obesity. Family history: affected brother with same phenotype and Xq27.3-q28 duplication.
147337292
152436515
5099224
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case305
N/A
M
Developmental delay and intellectual disability
Obesity, congenital anomalies, developmental delay, intellectual disability, facial dysmorphism and cutis marmorata. Karyotype: 46, XY, add(X)(p22).
Intellectual disability
143324486
156003433
12678948
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case737
F
ASD
ASD, facial dysmorphism and congenital anomalies.
146361793
156003433
9641641
GRCh38
Deletion
No
griswold_12_ASD_discovery_cases-case18072
NA
NA
ASD/autism
NA
NA
147787231
148041310
254080
GRCh38
Deletion
Yes
husson_20_ASD_discovery_cases-case394
24 yrs.
F
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
145817829
149596556
3778728
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000205
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146896288
149621145
2724858
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004579
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145879711
156022206
10142496
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005129
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147151996
150364798
3212803
GRCh38
Deletion
Yes
leite_22_DD/ID_discovery_cases-case006
11 yrs.
F
Developmental delay
Global developmental delay
145499095
149675404
4176310
GRCh38
Deletion
No
nagamani_12_DD_discovery_cases-case1
5 yrs.
F
Developmental delay
Birth/neonatal history: born at 40 weeks gestation, normal growth parameters at birth, unremarkable perinatal history. Developmental milestones: delayed speech development (1st words at 2 years); normal gross and fine motor developmental milestones. Language and communication: delays in expressive language; normal speech reception. Behavioral abnormalities: temper tantrums. Epilepsy/seizures: none. Brain imaging: NA. Dysmorphic features: epicanthal folds, up-slanting palpebral fissures, high-arched palate. Other features: none. Growth parameters: height, 50th %ile; weight, 50th %ile; OFC, 50th %ile. X-chromosome inactivation (XCI; allele A:B ratio): random (41:59). Family history: second child of non-consanguineous parents with unremarkable family history.
Developmental delay
147707513
148070742
363230
GRCh38
Duplication
Yes
nagamani_12_DD_discovery_cases-case2
5.5 yrs.
F
Developmental delay
Birth/neonatal history: delivered at 40 weeks gestation by C-section; immediate perinatal perios complicated by meconium aspiration syndrome that did not require any form of mechanical ventilation. Developmental milestones: delayed language and motor milestones (1st words by 20 months; sat unsupported by 9 months, stood by 16 months, walked by 18 months). Langauge and communication: expressive speech continued to be delayed at 5.5 years (evaluated as appropriate for a 3.5-year-old). Behavioral abnormalities: none. Epilepsy/seizures: none. Brain imaging: mild Chiari type I malformation observed by brain MRI. Dysmorphic features: none. Other features: syndactyly, urinary tract abnormalities. Growth parameters: height, >95th %ile; weight,>95th %ile; OFC, NA. X-chromosome inactivation (XCI; allele A:B ratio): random (76:34).
Developmental delay
147796927
148144967
348041
GRCh38
Duplication
Yes
nagamani_12_DD_discovery_cases-case3
5 yrs.
M
Developmental delay
Birth/neonatal history: born at 35 weeks gestation by C-section; antenatal history of mother complicated by uncontrolled hypertension. Developmental milestones: significant language delay (no words at 4 years of age); motor delay (sitting at 9 months, walking by 2 years). Behavioral abnormalities: none. Epilepsy/seizures: none. Brain imaging: prominent trigones observed by brain MRI. Dysmorphic features: epicanthus invertus, relatively large ears. Other features: none. Growth parameters: remarkable for relative macrocephaly; height, 12th %ile; weight, 10th %ile; OFC, 75th %ile.
Developmental delay
147838064
148103912
265849
GRCh38
Deletion
Yes
oikonomakis_16_ASD_discovery_cases-case36
8 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hypotonia, antimogoloid palpebral fissures, anteverted nares
147597112
148219829
622718
GRCh38
Deletion
No
panigrahi_24_ASD/DD/ID_discovery_cases-case24
3 yrs.
M
Developmental delay
Global developmental delay, subtle dysmorphism.
146791406
148752338
1960933
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case63
M
ASD
Antimogoloid palpebral fissures, anteverted nares, hypotonia, ASD
147597112
148219829
622718
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case24
Unknown
RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,AFF2,LINC00894
chaves_19_ASD/DD/ID_discovery_cases-case25
Unknown
RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,AFF2,LINC00894
chaves_19_ASD/DD/ID_discovery_cases-case305
Unknown
PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SLITRK4,HNRNPH1P2,RRM2P4,HNRNPCP10,RN7SKP189,CYCSP44,SPANXN1,SLITRK2,MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,SPANXN2,UBE2NL,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,AFF2,LINC00894
chaves_24_ASD/DD/ID_discovery_cases-case737
Unknown
CLIC2,ABCD1,AVPR2,ATP2B3,ARHGAP4,AMD1P2,ATP6AP1,BGN,CETN2,ATF4P1,DNASE1L1,TEX28,AFF2,CNGA2,FMR1,EMD,DKC1,FLNA,CTAG1B,F8,DUSP9,SRPK3,PNMA3,NSDHL,CTAG2,TMLHE,PLXNA3,HAUS7,PDZD4,FAM3A,GABRQ,FUNDC2,PRRG3,BRCC3,H2AB3,CD99L2,TMEM185A,EOLA1,CCNQ,PNMA6A,FATE1,PNMA5,RAB39B,PASD1,ZFP92,GAB3,PNCK,CSAG1,PHF10P1,FMR1NB,VMA21,IDH3G,GABRA3,G6PD,IDS,IRAK1,OPN1MW,HMGB3,IDSP1,GDI1,GABRE,IL9R,FTH1P8,HCFC1,IKBKGP1,MAGEA2B,CTAG1A,NAB1P1,KRT18P48,FAM223B,ATF4P2,CYCSP45,RPL7L1P11,RPL18AP16,XRCC6P2,CSAG3,OR3B1P,RPL19P21,KRT8P8,MIR105-1,MIR105-2,MIR224,H2AB2,F8A3,EEF1A1P31,MIR506,MIR513A1,MIR507,MIR514A2,MIR514A3,MIR514A1,MIR508,F8A2,TWF1P2,MIR510,MIR513A2,MIR452,H2AB1,MIR509-1,EOLA2,PNMA6E,SNORA56,SNORA36A,PWWP4,HMGN1P37,TEX28P1,PNMA6B,TEX28P2,OPN1MW2,MAGEA9B,MIR767,MIR509-2,FMR1-AS1,MIR509-3,HSFX2,HMGN2P48,CXorf51A,GPR50-AS1,ELL2P4,HAX1P1,CSAG4,MAGEA11,MAGEA12,MTM1,MAGEA8,MAGEA7P,MAGEA3,MPP1,MTCP1,MAGEA6,MAGEA1,L1CAM,MECP2,MAGEA4,MAGEA10,MAGEA2,MAGEA5P,MAGEA9,CXorf51B,FAM223A,SMIM9,RPSAP60,ELOCP24,SLIRPP1,CMC4,MIR513B,MIR1184-1,MIR718,MIR513C,MIR2114,ANKRD11P2,ZNF622P1,MIR3202-1,MIR3202-2,MIR1184-2,MIR514B,MIR4330,HSFX1,TMEM185AP1,MIR1184-3,TMLHE-AS1,RNA5SP517,MIR664B,AFF2-IT1,DUTP4,HCFC1-AS1,OPN1MW3,HSFX4,LINC00850,MAGEA8-AS1,PLXNB3,RENBP,OPN1LW,RPL10,HSFX3,MIR6858,CSAG2,MAGEA4-AS1,ECMXP,PNMA6F,FMR1-IT1,DPH3P2,VBP1,SSR4,TAFAZZIN,VAMP7,SLC6A8,RN7SL667P,RNU6-382P,RNU6-383P,RNU6-764P,RN7SL697P,RN7SKP267,RN7SL687P,RPL12P50,MAGEA6-DT,PPIAP91,RNA5SP524,RNA5SP525,TKTL1,UBL4A,F8A1,NAA10,IKBKG,TMEM187,MTMR1,SLC10A3,ZNF185,LAGE3,CD84P1,SRD5A2P1,BCAP31,GPR50,FAM50A,MAMLD1,SPRY3,ZNF275,TREX2
griswold_12_ASD_discovery_cases-case18072
qPCR
Maternal
Multiplex
Segregated
RNU6-382P,FMR1-AS1,RNA5SP524,FMR1,FMR1-IT1,FMR1NB
husson_20_ASD_discovery_cases-case394
WES
Unknown
Familial
Unknown
SLITRK2,MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,AFF2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000205
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,AFF2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004579
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,AFF2,LINC00894
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005129
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,MAMLD1,AFF2,LINC00894
leite_22_DD/ID_discovery_cases-case006
De novo
AFF2,FMR1,SLITRK2,TMEM185A,EOLA1,FMR1NB,IDS,IDSP1,FTH1P8,RPL7L1P11,TRMT1P1,MIR506,MIR513A1,MIR507,MIR514A2,MIR514A3,MIR514A1,MIR508,MIR510,MIR513A2,MIR509-1,MAGEA9B,MIR888,MIR892A,MIR509-2,MIR890,MIR892B,MIR891B,FMR1-AS1,MIR509-3,MIR891A,HSFX2,CXorf51A,ELL2P4,HAX1P1,CXorf51B,SLIRPP1,MIR513B,MIR513C,ANKRD11P2,MIR514B,RNA5SP517,AFF2-IT1,HSFX3,MIR892C,UFM1P1,FMR1-IT1,RNU6-382P,RN7SKP267,RNA5SP524
nagamani_12_DD_discovery_cases-case1
qPCR
De novo
Simplex
Likely segregated
RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
nagamani_12_DD_discovery_cases-case2
qPCR
De novo
Unknown
Likely segregated
RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
nagamani_12_DD_discovery_cases-case3
qPCR
De novo
Unknown
Likely segregated
FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
oikonomakis_16_ASD_discovery_cases-case36
De novo
RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
panigrahi_24_ASD/DD/ID_discovery_cases-case24
Unknown
AFF2,FMR1,FMR1NB,FTH1P8,RPL7L1P11,MIR506,MIR513A1,MIR507,MIR514A2,MIR514A3,MIR514A1,MIR508,MIR510,MIR513A2,MIR509-1,MIR509-2,FMR1-AS1,MIR509-3,CXorf51A,HAX1P1,CXorf51B,SLIRPP1,MIR513B,MIR513C,MIR514B,AFF2-IT1,FMR1-IT1,RNU6-382P,RNA5SP524
tzetis_12_DD/ID_discovery_cases-case63
De novo
Unknown
RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
Controls
No Control Data Available
No Animal Model Data Available