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9p24.3-p23CNV Type: Deletion


Largest CNV size: 13000000 bp

Statistics Box:
Number of Reports: 12


Summary Information

A de novo deletion containing the DOCK8 and KANK1 genes was identified in a female with autistic disorder and mental retardation. This case was also found to have a de novo 9p23-p21.2 duplication.

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

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
Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
NA
Deletion
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Deletion
NA
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Deletion
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akkus_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
 1227
 Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
 
 57.13% Male
 13546571
 0
 1
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 12400000
 1
 0
 1
 chen_22_DD/ID_discovery_cases
 Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
 69
 Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
 Average age at diagnosis, 19 mos.
 50.725% Male
 12132262
 1
 0
 1
 de_carvalho_24_DD/ID_discovery_cases
  NA NA
 Patients evaluated between 2011 and 2014 from the Medical Genetic Clinic of SGM/HUPES/UFBA (Bahia) and collaborating institutions, Albert Sabin Children's Hospital (Ceara), State Secretariat of Public Health of Rio Grande do Norte, Potiguar University (UNP/Rio Grande do Norte), and Association of Parents and Friends of Exceptional People, Sao Luiz (Maranhao).
 119
 Intellectual disability with or without dysmorphic features, as well as normal karyotype and fragile X exams, was the inclusion criteria for participating in this study.
 
 
 9217853
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 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
 12700000
 2
 0
 2
 du_21_ASD/DD/ID/EP_discovery_cases
 Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
 511
 Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
 Range, 3 mos.-35 yrs. (median age, 3 yrs.)
 73.6% Male
 13375753
 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
 13769906
 11
 1
 12
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 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
 12600000
 2
 0
 2
 mohamed_21_DD/ID_discovery_cases
  NA NA
 Individuals referred to the National Research Centre (Cairo, Egypt) with chromsome 9p terminal deletions (initially identified by karyotyping) who had additional aCGH evaluation to identify the precise extent of the deletion.
 6
 All individuals presented with developmental delay and intellectual disability; four individuals also presented with autistic behavior.
 Range, 5 mos.-9 yrs.
 33.33% Male
 11383623
 1
 0
 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
 11660001
 1
 0
 1
 yang_12_ASD_discovery_cases
 Female proband (born to unrelated Han Chinese parents) first examined at 4 years due to mental retardation and language developmental delay
 1
 Diagnosis of autism (case met criteria for autistic disorder on PL-ADOS and ADI-R, as well as DSM-IV criteria for autism) and mental retardation (diagnosed with Gesell Developmental Schedules)
 5 yrs.
 Female
 13000000
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 11955999
 2
 0
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 akkus_24_ASD/DD/ID_discovery_cases
  Turkey
 Array SNP
  Affymetrix CytoScan Optima
 
 ThermoFisher ChAS v.3.1.
 
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 chen_22_DD/ID_discovery_cases
  China
 WGS
  Illumina NovaSeq 6000
 NA
 Chigene
 None
 de_carvalho_24_DD/ID_discovery_cases
  Brazil
 CMA
  Illumina Scan Sqsistem, Illumina Human CytoSNP-12 BeadChip
 
 Illumina GenomeStudio v.2010.1, KaryoStudio v.1.4.3.0 Build 37 (CNV Plugin v.3.0.7.0)
 
 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
 du_21_ASD/DD/ID/EP_discovery_cases
  United States
 Solid phase hybridization
  Illumina CytoSNP-850Kv1.2 BeadChip
 NA
 Illumina Genome Studio V2009.2
 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
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 mohamed_21_DD/ID_discovery_cases
  Egypt
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 NA
 Affymetrix ChAS
 None
 wang_20_ID_discovery_cases
  Han Chinese
 WGS
  Illumina HiSeq 2000
 
 Short Oligonucleotide Analysis Package (SOAP) v.2.21
 None
 yang_12_ASD_discovery_cases
  Han Chinese
 MLPA
 
 
 
 Solid phase hybridization (Illumina Human CytoSNP-12 BeadChip), microsatellite analysis
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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
  akkus_24_ASD/DD/ID_discovery_cases-case46A
  NA NA
 0 yrs.
 M
 
 
 
 203861
 13750431
  13546571
 GRCh38
 Duplication
 No
  battaglia_13_DD/ID/ASD_discovery_cases-case70
 6 yrs. 3 mos.
 F
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Moderate-mild DD/ID
 37747
 12420023
  12382277
 GRCh38
 Deletion
 Yes
  chen_22_DD/ID_discovery_cases-case30
 15 mos.
 F
 Developmental delay and intellectual disability
 Gesell scores: 31-23-15-15-38. Clinical profile: delayed motor development, delayed speech and language development, abnormal facial appearance, muscular hypotonia, poor head control, dental hypoplasia, obesity, anemia, hypertriglyceridemia, and abnormal brain MRI.
 Intellectual disability.
 10000
 12142261
  12132262
 GRCh38
 Deletion
 No
  de_carvalho_24_DD/ID_discovery_cases-case6
  NA NA
 11 yrs.
 M
 Intellectual disability
 Additional medical history: cryptorchidism. Dysmorphic features: protruding ears, ocular hypertelorism, low anterior hairline, flattened skull, micrognathia, short neck.
 Intellectual disability
 46587
 9264439
  9217853
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_283327
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 271257
 12907827
  12636571
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_296352
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 271257
 13003712
  12732456
 GRCh38
 Deletion
 Yes
  du_21_ASD/DD/ID_discovery_cases-case367
 6 yrs.
 M
 Developmental delay
 Transient neonatal hypoglycemia, muscle weakness, oral phase dysphagia, speech disturbance, motor skills developmental delay, feeding difficulties, astigmatism, lack of coordination, hyperopia, sensory processing difficulties.
 
 46586
 13422338
  13375753
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000164
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1592306
 12387899
  10795594
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000841
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 204193
 13974100
  13769908
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 204193
 10340779
  10136587
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001607
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 211087
 13754567
  13543481
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003813
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 204193
 12302772
  12098580
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003865
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 203993
 13753101
  13549109
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004616
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 192102
 11081440
  10889339
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004775
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 204193
 13276053
  13071861
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004842
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 204193
 9363321
  9159129
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004956
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 211086
 11867480
  11656395
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 204193
 13454719
  13250527
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004994
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 203993
 12621562
  12417570
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown213
  NA NA
 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
 
 271257
 12907827
  12636571
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown214
  NA NA
 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
 
 271257
 12048612
  11777356
 GRCh38
 Deletion
 No
  mohamed_21_DD/ID_discovery_cases-case8
  NA NA
 2 yrs 8 mos.
 M
 Developmental delay, intellectual disability, and autistic behavior
 Developmental milestones: developmental delay, absent speech. Motor and musculoskeletal evaluation: global hypotonia, joint hyperlaxity, bilateral misaligned toes, clinodactyly, narrow flat feet, long first and second toes, bilateral short and dysplastic third toes, bilateral proximal thumb placement. Behavioral/psychiatric evaluation: autistic behavior, sleep disorders. Brain imaging: mild cortical and central atrophy, hypoplasia of the corpus callosum. Additional medical history: coarctation of the aorta, hypospadias, hypoplastic scrotum, gastrointestinal reflux, constipation, frequent infections, excessive drooling. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, arched/bushy eyebrows, hypertelorism, epicanthus, midface hypoplasia, flat nasal bridge, anteverted nares, long flat philtrum, low-set and posteriorly rotated ears, micrognathia, short neck, widely spaced nipples, fair and sparse hair. Growth parameters: weight -2.9 SD, height and head circumference mean.
 Intellectual disability
 203680
 11587302
  11383623
 GRCh38
 Deletion
 No
  wang_20_ID_discovery_cases-case14
 3 yrs. 6 mos.
 F
 Intellectual disability
 Cheilopalatognathus, congenital heart defect, simian crease, low set ears, blepharophimosis, hyperspasmia
 Intellectual disability
 1000000
 12660000
  11660001
 GRCh38
 Deletion
 No
  yang_12_ASD_discovery_cases-case1
 5 yrs.
 F
 Autism + mental retardation
 Case met diagnostic criteria for autistic disorder on both PL-ADOS and ADI-R; met DSM-IV crtieria for autism. Birth/neonatal history: unremarkable pregnancy; born at full term with birth weight in 50th-75th %ile; no neonatal problems. Developmental milestones: developmental delay noted by parents ~1 year after birth; all developmental milestones were delayed (sat alone at 11 months, walked at 1 year 7 months, first clear words at 4 years old). Language and communication evaluation: on neurological exam, case did not talk at all, communicated with gestures instead of words, & could only repeat some non-specific sounds without communicative intent; able to understand simple statements and question and respond appropriately to social and environmental stimulation; did not respond to eye contact. Behavioral/psychiatric evaluation: marked impairment in the use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression and body postures to regulate social interaction; exhibited two finger-to-mouth behaviors (thumb sucking and fingernail biting); did not play interactive games or make friends; fascinated with playing cards in a repetitive manner. Brain imaging: normal brain MRI. Vision: ophthalmic evaluation and ocular motility exam were normal. Cardiac evaluation: regular rhythm, no murmurs, rubs, or gallops. Other medical concerns and comorbidities: unremarkable physical exam; normal hematologic indices, liver function, biochemical findings, and metabolic exam. Dysmorphic features: prominent eyes, thin upper lip, prominent nose, long philtrum, 5th finger clinodactyly. Growth parameters: normal height (105 cm; 50th-75th %ile), weight (16 kg; 25th-50th %ile), and head circumference (49 cm; 25th-50th %ile). Family history: unrelated parents; family history of heart defects in paternal cousins. Other genetic characteristics: chromosomal translocation t(11;9)(p15;p23).
 Severe mental retardation. Gesell Developmental Scales evaluation at 4 years: motor behavior developmental quotient (DQ) of 40; language behaivor DQ of 34; adaptive ability DQ of 35; personal-social DQ of 31.
 36587
 13458616
  13000000
 Unknown
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case1-0324-003
 N/A
 M
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A. Additional genetic information: 46 XY.ish der (9)t(6;9)(p24;p23)(6ptell48+,9ptel-)mat.
 
 39001
 11995000
  11956000
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-1265-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: inactive thyroid when young
 
 39501
 9797000
  9757500
 GRCh38
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akkus_24_ASD/DD/ID_discovery_cases-case46A
 
 
 Unknown
 
 
 MLANA,DMRT1,RANBP6,CD274,AK3,SPATA6L,CDC37L1,PLGRKT,DMRT3,RIC1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP2,DOCK8-AS1,KIAA2026,KCNV2,RPL4P5,GLIS3,INSL4,IGHEP2,GLDC,LURAP1L,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,LINC01235,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,JKAMPP1,TCF3P1,AK4P4,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RPL12P25,RPS27AP14,RNF152P1,ACTG1P14,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,PTPRD,RLN1,RN7SL5P,RFX3,RLN2,LURAP1L-AS1,CDC37L1-DT,LINC01231,PTPRD-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,SLC1A1,PRDX1P1,SMARCA2,TYRP1,VLDLR,RNU6-694P,RNU2-25P,RN7SL849P,MTND6P5,RNU2-47P,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,MPDZ,H3P29,RCL1,PUM3,DMRT2,INSL6,KDM4C,KANK1
 
 battaglia_13_DD/ID/ASD_discovery_cases-case70
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 LINC01388,FOXD4,RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,WASHC1,PGM5P3-AS1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,CBWD1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 chen_22_DD/ID_discovery_cases-case30
 
 
 De novo
 
 
 MLANA,DMRT1,FOXD4,RANBP6,CD274,AK3,SPATA6L,CDC37L1,PLGRKT,DMRT3,RIC1,CBWD1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP2,DOCK8-AS1,KIAA2026,KCNV2,RPL4P5,GLIS3,INSL4,IGHEP2,GLDC,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,FAM138C,TCF3P1,AK4P4,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RPL12P25,DDX11L5,RPS27AP14,WASHC1,RNF152P1,ACTG1P14,ECM1P1,KLF4P1,CSNK1G2P1,MIR1302-9,EIF1P1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,PTPRD,RLN1,RN7SL5P,RFX3,RLN2,CDC37L1-DT,LINC01231,LINC01388,PTPRD-AS1,PGM5P3-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,MIR1302-9HG,H3P29,RCL1,PUM3,DMRT2,INSL6,KDM4C,KANK1
 
 de_carvalho_24_DD/ID_discovery_cases-case6
 
 
 Unknown
 
 
 MLANA,DMRT1,FOXD4,RANBP6,CD274,AK3,SPATA6L,CDC37L1,PLGRKT,DMRT3,RIC1,CBWD1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP2,DOCK8-AS1,KIAA2026,KCNV2,RPL4P5,GLIS3,INSL4,IGHEP2,GLDC,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,TCF3P1,AK4P4,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RPL12P25,RPS27AP14,WASHC1,RNF152P1,ACTG1P14,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,PTPRD,RLN1,RFX3,RLN2,CDC37L1-DT,LINC01231,LINC01388,PTPRD-AS1,PGM5P3-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,H3P29,RCL1,PUM3,DMRT2,INSL6,KDM4C,KANK1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_283327
 qPCR
 
 Maternal (translocation)
 
 
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,LINC01230,SMARCA2,GLIS3,PTPRD
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_296352
 qPCR
 
 Unknown
 
 
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,LINC01230,SMARCA2,GLIS3,PTPRD
 
 du_21_ASD/DD/ID_discovery_cases-case367
 
 
 Unknown
 
 
 MLANA,DMRT1,FOXD4,RANBP6,CD274,AK3,SPATA6L,CDC37L1,PLGRKT,DMRT3,RIC1,CBWD1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP2,DOCK8-AS1,KIAA2026,KCNV2,RPL4P5,GLIS3,INSL4,IGHEP2,GLDC,LURAP1L,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,LINC01235,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,JKAMPP1,TCF3P1,AK4P4,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RPL12P25,RPS27AP14,WASHC1,RNF152P1,ACTG1P14,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,PTPRD,RLN1,RN7SL5P,RFX3,RLN2,LURAP1L-AS1,CDC37L1-DT,LINC01231,LINC01388,PTPRD-AS1,PGM5P3-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,SLC1A1,PRDX1P1,SMARCA2,TYRP1,VLDLR,RNU6-694P,RNU2-25P,RN7SL849P,MTND6P5,RNU2-47P,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,MPDZ,H3P29,RCL1,PUM3,DMRT2,INSL6,KDM4C,KANK1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000164
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000841
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,LINC00583,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001607
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003813
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003865
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004616
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004775
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004842
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004956
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,LINC01230,SMARCA2,GLIS3,PTPRD
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004994
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown213
 
 
 De novo
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,LINC01230,SMARCA2,GLIS3,PTPRD
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown214
 
 
 De novo
 Unknown
 Unknown
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 mohamed_21_DD/ID_discovery_cases-case8
 
 
 Unknown
 
 
 MLANA,DMRT1,RANBP6,CD274,AK3,SPATA6L,CDC37L1,PLGRKT,DMRT3,RIC1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP2,DOCK8-AS1,KIAA2026,KCNV2,RPL4P5,GLIS3,INSL4,IGHEP2,GLDC,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,TCF3P1,AK4P4,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RPL12P25,RPS27AP14,RNF152P1,ACTG1P14,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,PTPRD,RLN1,RN7SL5P,RFX3,RLN2,CDC37L1-DT,LINC01231,PTPRD-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,H3P29,RCL1,PUM3,DMRT2,INSL6,KDM4C,KANK1
 
 wang_20_ID_discovery_cases-case14
 
 
 Unknown
 Unknown
 Unknown
 RNU6-1073P,H3P29,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,LINC02851,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,PTPRD-AS1,IMP3P1,JKAMPP1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 yang_12_ASD_discovery_cases-case1
 Solid phase hybridization (Illumina Human CytoSNP-12 BeadChip), microsatellite analysis
 
 De novo
 Unknown, possibly simplex
 Possibly segregated
 FOXD4,CBWD1,C9orf66,DOCK8,KANK1,DMRT1,DMRT3,DMRT2,SMARCA2,VLDLR,KCNV2,KIAA0020,RFX3,GLIS3,SLC1A1,SPATA6L,PPAPDC2,CDC37L1,AK3,RCL1,JAK2,INSL6,INSL4,RLN2,RLN1,PLGRKT,CD274,PDCD1LG2,KIAA1432,ERMP1,MLANA,KIAA2026,RANBP6,IL33,TPD52L3,UHRF2,GLDC,KDM4C,C9orf123,PTPRD,TYRP1,LURAP1L,MPDZ
 
 yuen_17_ASD_discovery_cases-case1-0324-003
 Illumina OMNI 2.5M
 
 Possibly maternal [unbalanced translocation 46 XY.ish der (9)t(6;9)(p24;p23)(6ptell48+,9ptel-)mat]
 Simplex
 Unknown
 LINC01388,FOXD4,RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,WASHC1,PGM5P3-AS1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,CBWD1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LINC01230,SMARCA2,GLIS3,PTPRD
 
 yuen_17_ASD_discovery_cases-case2-1265-003
 Affymetrix 6.0
 
 De novo
 Simplex
 Segregated
 LINC01388,FOXD4,RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,WASHC1,PGM5P3-AS1,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,CBWD1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,LINC01230,SMARCA2,GLIS3,PTPRD
 

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