5q35.2-q35.3CNV Type: Duplication
Largest CNV size: 71000 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
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-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Micro...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Duplication
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
2023458
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1493337
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1340000
14
4
18
guo_19_DD/ID_discovery_cases
Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
54
Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
Median age, 15 (8-26) months
61.1% Male
4860000
0
1
1
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
1910576
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
4903997
9
4
13
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
450986
0
1
1
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
1564556
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
1822000
0
1
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
2137878
1
0
1
rosenfeld_13_DD_discovery_cases
Probands analyzed by aCGH by Signature Genomic Laboratories from May 2004-February 2012
53059
Developmental delay (DD)
N/A
N/A
1847664
0
8
8
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)
71000
0
1
1
wang_20_ID_discovery_cases
Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
95
All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
Range, 1 yr. 1 mo.-16 yrs.
68.0% Male
4340004
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1340000
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
1284984
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
guo_19_DD/ID_discovery_cases
China
NGS
Illumina HiSeq 2500
m-HMM
FASTQ v.0.18.1
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
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
rosenfeld_13_DD_discovery_cases
N/A
aCGH
BACs aCGH, SignatureChipOS; all NSD1 duplications identified by BACs aCGH rerun for breakpoint refinement ib SignatureSelect 1.1 105K array, NimbleGen CGX 135 K array, or Illumina 610 Quad SNP array
FISH
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
wang_20_ID_discovery_cases
Han Chinese
WGS
Illumina HiSeq 2000
Short Oligonucleotide Analysis Package (SOAP) v.2.21
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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_24_ASD/DD/ID_discovery_cases-case606
F
Developmental delay
Large hands and feet, plagiocephaly, developmental delay, axial hypotonia, dilated cardiopathy, inguinal hernia
175989092
178012549
2023458
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300632
N/A
M
Developmental delay/intellectual disability
176463495
177956831
1493337
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case1995
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1996
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1997
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1998
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1999
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2000
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2001
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2002
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2003
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2004
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2005
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2006
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2007
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2008
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2009
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2010
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2011
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2012
NA
NA
Developmental delay
NA
NA
176290391
177630393
1340003
GRCh38
Duplication
NA
guo_19_DD/ID_discovery_cases-case7
11 mos.
F
Hypotonia and microcephaly
Facial asymmetry, prominent nasal bridge, hypotelorism, large forehead, downturned corners of mouth, abnormality of the globe, hypotelorism, abnormality of the pinna, abnormality of the nervous system, microcephaly, motor deterioration, premature closure of fontanelles, abnormality of the musculature, hypotonia, malabsorption
176416727
181276727
4860001
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case17D020
2 yrs. 10 mos.
M
Developmental delay
176143674
178054249
1910576
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000317
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176132340
177586960
1454621
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001589
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176115257
177646633
1531377
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001642
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
175851047
178365049
2514003
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002174
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176152073
177986213
1834141
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002179
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176152073
177646633
1494561
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002721
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
175889986
180793986
4904001
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003832
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
175007241
179089812
4082572
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003892
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176043476
177995759
1952284
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004533
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176152073
177986213
1834141
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004666
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176132340
177586960
1454621
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005079
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176149599
177716401
1566803
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005126
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176043476
177452489
1409014
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005132
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
176132340
177586960
1454621
GRCh38
Deletion
Yes
leite_22_DD/ID_discovery_cases-case048
4 yrs.
M
Developmental delay
Global developmental delay
176955007
177405992
450986
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case9
NA
M
ASD, ADHD, and OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 17 years of age; case also presented with ADHD and Asperger's syndrome.
176135900
177700455
1564556
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown181
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
176010644
177833100
1822457
GRCh38
Mosaic duplication
No
miclea_22_DD/ID_discovery_cases-case55
NA
NA
Developmental delay and intellectual disability
Global developmental delay, Sotos syndrome, dysmorphic features, language delay, obesity, CNS malformation, renal malformation
Intellectual disability
175919219
178057096
2137878
GRCh38
Deletion
No
rosenfeld_13_DD_discovery_cases-case1
13 yrs.
F
Developmental delay and ADHD
Growth parameters: short stature. Bone age: not available. Neurodevelopment: DD, ADHD. Dysmorphic features: not specified. Skeletal and digital anomalies: not specified. Other features: not specified. Family history: not specified.
Developmental delay
176057958
177716638
1658681
GRCh38
Duplication
Yes
rosenfeld_13_DD_discovery_cases-case2
2 yrs. 9 mos.
F
Other (non-NDD)
Growth parameters: height -2.2 SD, weight -3.0 SD, OFC -3.6 SD. Bone age: not available. Neurodevelopment: not specified. Dysmorphic features: not specified. Skeletal and digital anomalies: not specified. Other features: hypoplastic left heart. Family history: not specified.
176153048
178000714
1847667
GRCh38
Duplication
Yes
rosenfeld_13_DD_discovery_cases-case3
21 mos.
M
Developmental delay
Growth parameters: height -1 SD, weight <<5th %ile, OFC <5th %ile. Bone age: not available. Neurodevelopment: DD, hypotonia. Dysmorphic features: hypertelorism, large palpebral fissures, pectus excavatum. Skeletal and digital anomalies: none. Other features: tethered cord. Family history: maternal aunt with cerebral palsy.
Developmental delay
176153048
178000714
1847667
GRCh38
Duplication
Yes
rosenfeld_13_DD_discovery_cases-case4
2 yrs. 5 mos.
M
Developmental delay
Growth parameters: height -1.5 SD, weight -2.4 SD, OFC -4.1 SD. Bone age: not available. Neurodevelopment: mild global DD, facial hypotonia. Dysmorphic features: epicanthal folds, hypertelorism, long philtrum, upturned nose, full lips, micrognathia. Skeletal and digital anomalies: 5th finger clinodactyly. Other features: strabismus, history of feeding problems. Family history: mother's height -0.8 SD and OFC -3.8 SD; mother also overweight and with learning disability; father's height -2.6 SD; father also with ADHD.
Mild global developmental delay
176153048
178000714
1847667
GRCh38
Duplication
Yes
rosenfeld_13_DD_discovery_cases-case5a
4 yrs.
F
Developmental delay
Growth parameters: height -1.6 SD, weight -1.4 SD, OFC -2.6 SD. Bone age: not available. Neurodevelopment: borderline DD, attention issues. Dysmorphic features: upslanting palpebral fissures, bilateral epicanthal folds, thin upper lip, mild bitemporal narrowing, upturned nose. Skeletal and digital anomalies: mild 5th finger clinodactyly. Other features: fine tremors, abnormal EEG without seizures, central apnea. Family history: affected maternal half-sibling (rosenfeld_13_DD_discovery_cases-case5b); mother's height -1.7 SD; mother also microcephalic with IQ 50-60.
Borderline developmental delay
176289272
177956832
1667561
GRCh38
Duplication
Yes
rosenfeld_13_DD_discovery_cases-case5b
2 yrs.
M
Developmental delay
Growth parameters: height -1.45 SD, weight -1.0 SD, OFC -2.0 SD. Bone age: not available. Neurodevelopment: expressive language delays, normal motor development. Dysmorphic features: right class II microtia. Skeletal and digital anomalies: right thumb duplication. Other features: normal to mild conductive hearing loss on left ear, middle ear dysfunction on right ear. Family history: affected maternal half-sibling (rosenfeld_13_DD_discovery_cases-case5a); mother's height -1.7 SD; mother also microcephalic with IQ 50-60.
176153048
178000714
1847667
GRCh38
Duplication
Yes
rosenfeld_13_DD_discovery_cases-case6
16 mos.
M
Developmental delay
Growth parameters: height -3.5 SD, weight -3.5 SD, OFC -3.8 SD. Bone age: not available. Neurodevelopment: speech delay; otherwise normal development. Dysmorphic features: epicanthal folds. Skeletal and digital anomalies: prominent finger fat pads. Other features: feeding problems, decreased deep tendon reflexes. Family history: mother's height +0.3 SD; father's height -0.7 SD; brother's height at age of 6 years, +2 SD.
176388052
177959403
1571352
GRCh38
Duplication
Yes
rosenfeld_13_DD_discovery_cases-case7
8 yrs.
M
Developmental delay
Growth parameters: height -4.1 SD, weight -3.5 SD, OFC -4.4 SD. Bone age: delayed, -3.7 SD. Neurodevelopment: DD; special services in school, not doing math. Dysmorphic features: none. Skeletal and digital anomalies: short 5th fingers, possibly short ulna. Other features: small hydrocele (resolved), pituitary cyst (resolved), allergies, asthma, dermatitis. Family history: mother's height -1.7 SD; mother also with possible learning disability; brother (not tested) had learning disability and behavioral problems, but normal stature.
Developmental delay
177036269
177401675
365407
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case17
F
DD/ID
characteristic facial appearance, macrocephaly, excessive growth
177231849
177303304
71456
GRCh38
Duplication
No
wang_20_ID_discovery_cases-case2
1 yr. 6 mos.
F
Intellectual disability
Recurrent respiratory infections, simian crease, limb hypotonia
Intellectual disability
176312997
180653000
4340004
GRCh38
Duplication
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_24_ASD/DD/ID_discovery_cases-case606
Unknown
CLTB,FGFR4,F12,DBN1,PRELID1,DDX41,NOP16,UIMC1,FAM193B,TMED9,RAB24,CDHR2,KIAA1191,DOK3,NSD1,PRR7,MXD3,THOC3,UNC5A,GPRIN1,FAM153B,HIGD2A,HK3,GRK6,EIF4E1B,FAM153A,ARL10,PRR7-AS1,PFN3,SUDS3P1,SIMC1,OR1X1P,OR1X5P,FAM153CP,MIR1271,BRCC3P1,PRMT1P1,MIR4281,PROP1,LINC01574,FAM193B-DT,SNCB,SLC34A1,RN7SL684P,ZNF346-IT1,PDLIM7-AS1,PDLIM7,B4GALT7,RGS14,RNF44,LMAN2,ZNF346,FAF2,TSPAN17
digregorio_17_DD/ID_discovery_cases-DECIPHER_300632
qPCR
Unknown
RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case1995
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case1996
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case1997
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case1998
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case1999
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2000
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2001
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2002
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2003
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2004
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2005
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2006
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2007
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2008
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2009
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2010
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2011
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
girirajan_12_ASD/DD/ID_discovery_cases-case2012
NA
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
guo_19_DD/ID_discovery_cases-case7
De novo
RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,RN7SL646P,RN7SKP70,RNU1-39P,PIGFP1,PRDX2P3,C5orf60,CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,RNU6-525P,SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,LINC00847,ZFP62,RPS29P12,RNU6-1036P,MIR8089,FOXO1B,TRIM7,MIR4638,SNORD96A,SNORD95,TRIM52-AS1,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,FAM153CP,RMND5B,HNRNPAB,PHYKPL,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,HNRNPH1,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,MGAT1,HEIH,BTNL8,BTNL3,BTNL9,OR2V1,OR2V2,LINC01962,TRIM41,RACK1,TRIM52,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,AACSP1,ZFP2,RUFY1,CANX,SQSTM1,RNF130,FLT4,NSD1,COL23A1,ADAMTS2
han_22_ASD/DD/ID_discovery_cases-case17D020
De novo
CLTB,FGFR4,F12,DBN1,PRELID1,DDX41,NOP16,UIMC1,FAM193B,TMED9,RAB24,CDHR2,KIAA1191,DOK3,NSD1,PRR7,MXD3,UNC5A,GPRIN1,HIGD2A,HK3,GRK6,EIF4E1B,FAM153A,ARL10,PRR7-AS1,PFN3,SUDS3P1,SIMC1,OR1X5P,FAM153CP,MIR1271,BRCC3P1,PRMT1P1,MIR4281,PROP1,LINC01574,FAM193B-DT,SNCB,SLC34A1,RN7SL684P,ZNF346-IT1,PDLIM7-AS1,PDLIM7,B4GALT7,RGS14,RNF44,LMAN2,ZNF346,FAF2,TSPAN17
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000317
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001589
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001642
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR1X1P,MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,CPLX2,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,FAM153C,RMND5B,HNRNPAB,PHYKPL,THOC3,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1,COL23A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002174
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002179
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002721
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR1X1P,MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,RN7SL646P,RN7SKP70,RNU1-39P,PIGFP1,PRDX2P3,C5orf60,CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,RNU6-525P,SCGB3A1,LINC02222,OR2AI1P,RNU1-17P,OR2Y1,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,FAM153C,RMND5B,HNRNPAB,PHYKPL,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,HNRNPH1,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,MGAT1,THOC3,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,AACSP1,ZFP2,RUFY1,CANX,SQSTM1,RNF130,FLT4,NSD1,COL23A1,ADAMTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003832
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ARL2BPP6,DRD1,RN7SKP148,RNU6-226P,OR1X1P,MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,RN7SL646P,RN7SKP70,RNU1-39P,PIGFP1,HRH2,CPLX2,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,FAM153C,RMND5B,HNRNPAB,PHYKPL,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,SFXN1,THOC3,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,AACSP1,ZFP2,NSD1,COL23A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003892
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004533
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004666
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005079
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005126
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,NSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005132
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,NSD1
leite_22_DD/ID_discovery_cases-case048
De novo
FGFR4,F12,PRELID1,UIMC1,RAB24,NSD1,MXD3,GRK6,PFN3,PRMT1P1,SLC34A1,ZNF346-IT1,RGS14,LMAN2,ZNF346
mahjani_22_OCD/CTD_discovery_cases-case9
Unknown
CLTB,FGFR4,F12,DBN1,PRELID1,DDX41,NOP16,UIMC1,FAM193B,TMED9,RAB24,CDHR2,KIAA1191,DOK3,NSD1,PRR7,MXD3,UNC5A,GPRIN1,HIGD2A,HK3,GRK6,EIF4E1B,ARL10,PRR7-AS1,PFN3,SIMC1,MIR1271,BRCC3P1,PRMT1P1,MIR4281,LINC01574,FAM193B-DT,SNCB,SLC34A1,RN7SL684P,ZNF346-IT1,PDLIM7-AS1,PDLIM7,B4GALT7,RGS14,RNF44,LMAN2,ZNF346,FAF2,TSPAN17
maini_18_ASD/DD/ID_discovery_cases-case_unknown181
De novo
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,THOC3,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
miclea_22_DD/ID_discovery_cases-case55
Unknown
CLTB,FGFR4,F12,DBN1,PRELID1,DDX41,NOP16,UIMC1,FAM193B,TMED9,RAB24,CDHR2,KIAA1191,DOK3,NSD1,PRR7,MXD3,THOC3,UNC5A,GPRIN1,FAM153B,HIGD2A,HK3,GRK6,EIF4E1B,FAM153A,ARL10,PRR7-AS1,PFN3,SUDS3P1,SIMC1,OR1X1P,OR1X5P,FAM153CP,MIR1271,BRCC3P1,PRMT1P1,MIR4281,PROP1,LINC01574,FAM193B-DT,THOC3-AS1,SNCB,SLC34A1,RN7SL684P,ZNF346-IT1,PDLIM7-AS1,PDLIM7,B4GALT7,RGS14,RNF44,LMAN2,ZNF346,FAF2,TSPAN17
rosenfeld_13_DD_discovery_cases-case1
FISH
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,FAM153B,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
rosenfeld_13_DD_discovery_cases-case2
FISH
De novo
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
rosenfeld_13_DD_discovery_cases-case3
FISH
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
rosenfeld_13_DD_discovery_cases-case4
FISH
Possibly one or both parents
Maternal
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
rosenfeld_13_DD_discovery_cases-case5a
FISH
Possibly maternal
Likely maternal
Multiplex (affected maternal half-sib)
Possibly segregated
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
rosenfeld_13_DD_discovery_cases-case5b
FISH
Possibly maternal
Likely maternal
Multiplex (affected maternal half-sib)
Possibly segregated
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,BRCC3P1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,NSD1
rosenfeld_13_DD_discovery_cases-case6
FISH
De novo
Simplex
Likely segregated
NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,NSD1
rosenfeld_13_DD_discovery_cases-case7
FISH
Maternal
Multiplex (brother with LD and behavioral problems)
Unknown (brother not tested)
ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,FGFR4,MXD3,SLC34A1,ZNF346,LMAN2,NSD1
tzetis_12_DD/ID_discovery_cases-case17
Unknown
Unknown
PRMT1P1,RAB24,MXD3,NSD1
wang_20_ID_discovery_cases-case2
Unknown
Unknown
Unknown
MIR1271,NOP16,HIGD2A,RN7SL684P,SNCB,MIR4281,LINC01574,ZNF346-IT1,PRMT1P1,RAB24,PRELID1,RGS14,PFN3,DDX41,TMED9,OR1X5P,SUDS3P1,N4BP3,NHP2,GMCL2,RN7SL646P,RN7SKP70,RNU1-39P,PIGFP1,PRDX2P3,C5orf60,CBY3,LTC4S,MIR1229,RN7SKP150,RPS15AP18,MIR340,RNU6-525P,SCGB3A1,KIAA1191,ARL10,CLTB,FAF2,RNF44,GPRIN1,EIF4E1B,TSPAN17,HK3,FGFR4,MXD3,SLC34A1,F12,GRK6,PRR7-AS1,PRR7,PDLIM7,DOK3,FAM193B,FAM153CP,RMND5B,HNRNPAB,PHYKPL,CLK4,ZNF354A,ZNF354B,ZNF454,GRM6,ZNF879,ZNF354C,HNRNPH1,HMGB3P22,MAML1,MGAT4B,MRNIP,TBC1D9B,RASGEF1C,MAPK9,GFPT2,CNOT6,SIMC1,CDHR2,UNC5A,UIMC1,ZNF346,LMAN2,DBN1,B4GALT7,FAM153A,PROP1,AACSP1,ZFP2,RUFY1,CANX,SQSTM1,RNF130,FLT4,NSD1,COL23A1,ADAMTS2
Controls
No Control Data Available
No Animal Model Data Available