1q21.1-q21.2CNV Type: Duplication
Largest CNV size: 1916594 bp
Statistics Box:
Number of Reports: 50
Number of Reports: 50
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing
Deletion
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and auti...
Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion-Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Duplication
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Deletion-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
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
4222111
2
2
4
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
1967946
0
1
1
bourgois_23_ASD/ADHD/DD_discovery_cases
Cases with 1q21.1-q21.2 copy number variation (from an initial cohort of 34 previously unreported individuals referred to the Department of Clinical Genetics at the Caen hospital for developmental delay, intellectual disability, dysmorphic features and/or congenital anomalies from 2008 to 2020)
30
The most common neurodevelopmental/behavioral phenotypes observed in cases from this report included autism spectrum disorder (n=3), ADHD (n=8), and developmental delay (n=14).
Range, fetus-51 yrs.
60% Male
6206909
7
16
23
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
2600000
1
0
1
ceylan_19_DD/ID_discovery_cases
Unrelated individuals presenting with 1q21.1 CNVs from a cohort of approximately 10,000 DD/ID patients evaluated between December 2014 and April 2017 at three hospitals
8
All cases presented with developmental delay and/or intellectual disability (DD/ID); one case was diagnosed with ASD, while another presented with autistic features.
Range, 40 days-17 years
37.5% Male
2660000
6
1
7
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
1365413
0
1
1
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
1323391
0
1
1
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
4222111
0
3
3
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
6319654
2
1
3
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
1924869
0
1
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
1439611
2
0
2
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
1820000
1
1
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
750252
0
2
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
3184331
1
1
2
gourari_18_ASD/EP_discovery_cases
10-year-old female patient presenting with a distal 1q21.1 microduplication of unknown origin
1
Case presented with low functioning autism spectrum disorder (ASD), focal motor epilepsy, and macrocephaly
10 years
Female
1300000
0
1
1
granata_25_ASD_discovery_cases
"Patients recruited from the Child Neuropsychiatry Unit and the Cytogenetics and Medical Genetics Unit of ""ASST Sette Laghi"", Varese, Italy."
122
Cases diagnosed with ASD based on DSM-5 criteria and presented without epilepsy, dysmorphic features, intellectual disability, microcephaly, six or more minor anomalies, or systemic congenital malformations.
Range, 3-12 yrs.
85.25% Male
4222111
1
2
3
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
1916594
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
1915599
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
1626317
0
1
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
1250000
0
1
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
1305899
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2212988
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2646995
1
5
6
kucinska_24_ASD_discovery_cases
Patients referred from the Genetics Clinic and the Neurology Department of the Polish Mothers Memorial Hospital Research Institute from 20182021.
180
Cases diagnosed with ASD according to DSM-IV and DSM-5 criteria and assigned a disease code based on ICD-10 classification; a subset of cases also presented with motor and/or speech developmental delay, intellectual disability, and/or epilepsy.
Range, 2.4-17.9 yrs.
76.67% Male
5214205
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
3888650
0
3
3
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
5214206
8
3
11
lai_24_DD/ID_discovery_cases
Pediatric patients assessed at the Clinical Genetics Laboratory of the Ganzhou Maternal and Child Health Hospital who were recruited between January 2021 and December 2023.
144
Clinical manifestations observed in this cohort included global developmental delay (HP:0001263; n=46, 31.94%), intellectual disability (HP:0001249; n=44, 30.56%), seizures (HP:0001250, n = 24, 16.67%), and autistic behavior (HP:0000729; n=19, 13.19%).
Median age 4yrs. (range 0-17 yrs.)
59.03% Male
949149
1
0
1
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
1103370
0
1
1
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
1923549
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1900000
1
7
8
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1713752
0
3
3
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
5214206
1
0
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
5900000
3
1
4
matthews_17_ASD_discovery_cases
Only child of healthy, non-consanguineous parents presenting with a paternally-inherited 1q21.1-q21.2 microduplication and a de novo mosaic mutation in the SPAST gene, enrolled in the TIDEX study (BC Children's and Women's Hospital, University of British Columbia, Vancouver, Canada)
1
Case diagnosed with autism spectrum disorder (ASD) and anxiety; case also presented with spastic paraplegia
12 years
Male
1730000
0
1
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
2600000
1
4
5
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
2937225
1
0
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
2738000
0
2
2
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
1635351
2
0
2
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
2700000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
103799280
6
9
15
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
2766484
2
1
3
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
2789780
1
1
2
repnikova_19_ASD/DD/ADHD_discovery_cases
Unrelated individuals with exonic CNVs involving the CNTN6 gene from an initial cohort of 6,200 patients referred to Children's Mercy Hospital and 14,026 patients referred to Nationwide Children's Hospital for microarray testing from 2008 to 2015
19
The most frequently observed phenotypes in this cohort were developmental delay (9 patients), ASD (diagnosis based on DSM-IV criteria in seven patients), and ADHD (six patients).
Range, 10 days-60 years
63.16% Male
1195005
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
1317000
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
6054115
1
2
3
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
3287385
1
0
1
wu_24_ASD/ADHD/DD/ID_discovery_cases
Children with unexplained neurodevelopmental disorders and one of more neurodevelopmental comorbidities who had undergone trio-WES and were admitted to the Children's Medical Center of Sun Yat-sen Memorial Hospital, Sun Yat-sen University from October 2018 to December 2022.
163
Diagnoses of ASD, ADHD, and/or global developmental delay/intellectual disability were made following DSM-V diagnostic criteria.
4222111
2
0
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
627600
0
1
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
1422000
2
7
9
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
2033577
0
4
4
zhang_23_ASD/DD/ID_discovery_cases
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
354
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Range, 1-12 yrs.
78.81% Male
5138391
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
1484111
0
1
1
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
1916594
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1716812
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
1493900
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
1300000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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.
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bourgois_23_ASD/ADHD/DD_discovery_cases
France
aCGH
Agilent 8x60K
ADM-2
Agilent Cytogenomics v.4.0.2.21
RT-qPCR
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
ceylan_19_DD/ID_discovery_cases
Turkish
aCGH, array SNP
Agilent 8x60K, Affymetrix Optima
Agilent Cytogenomics v.2.7.2, ChAS v.3.1
qPCR
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
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
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
aCGH (Agilent 180K)
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
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gourari_18_ASD/EP_discovery_cases
United States
Array SNP
Affymetrix CytoScan HD
None
granata_25_ASD_discovery_cases
Italy
aCGH
CytoSure ISCA V3 4x180K
CytoSure Interpret (OGT)
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
aCGH
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kucinska_24_ASD_discovery_cases
Poland
aCGH
OGT CytoSure 4x180K
Agilent Feature Extraction v.12.1.0.3, CytoSure Interpret Software v.4.10.
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lai_24_DD/ID_discovery_cases
China
WES
Illumina NovaSeq 6000
PCR or Sanger
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
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
matthews_17_ASD_discovery_cases
Mother of Canadian: British-Scottish descent, father of Portuguese descent
Array SNP
Affymetrix CytoScan HD
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
repnikova_19_ASD/DD/ADHD_discovery_cases
N/A
aCGH, array SNP
Roche NimbleGen 135K, Agilent CGH+SNP 135K, OGT 4x180K ISCA v2, Affymetrix Cytoscan HD
Agilent CGH analytics v.3.4.40, Agilent Feature Extraction v.9.5.1, Agilent DNA Analytics v.4.0.91,
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
wu_24_ASD/ADHD/DD/ID_discovery_cases
China
WES
Illumina Novaseq 6000
Picard v.2.18.2, GATK Haplotype Caller v.4.0.4, ANNOVAR v2019/10/24
CMA
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
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)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhang_23_ASD/DD/ID_discovery_cases
China
WGS
Illumina Novaseq
NA
CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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-case13
13 yrs.
M
Developmental delay/intellectual disability and epilepsy
Developmental delay/intellectual disability, epilepsy, occipital encephalomalacia, prominent ears, narrow forehead.
Developmental delay/intellectual disability
145313004
149535114
4222111
GRCh38
Deletion
No
akkus_24_ASD/DD/ID_discovery_cases-case38A
15 yrs.
F
Short stature
Short stature
147109535
147921435
811901
GRCh38
Duplication
No
akkus_24_ASD/DD/ID_discovery_cases-case65A
2 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, corpus callosum hypoplasia
Developmental delay/intellectual disability
145601946
149357695
3755750
GRCh38
Deletion
No
akkus_24_ASD/DD/ID_discovery_cases-case65A
2 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, corpus callosum hypoplasia
Developmental delay/intellectual disability
145313004
149535114
4222111
GRCh38
Duplication
No
annunziata_21_ASD_discovery_cases-caseIB257
NA
M
ASD
Case diagnosed with ASD (ADOS comparative score 4, ADOS social affect domain score 0.7, ADOS restricted and repetitive behaviors domain score 0.75). Birth/neonatal history: born at term via caesarean sections following a normal pregnancy. EEG: diffuse epileptiform discharges while falling asleep, prevalent in the right posterior region. Brain imagiing: normal. Additional medical history: minor genito-urinary tract malformations. Dysmorphic features: significant peculiar facial characteristics. Growth parameters: height 97th %ile, weight >>97th %ile; macrocephaly (head circumference >97th %ile). Family history: positive for neuropsychiatric disorders in paternal family (mental retardation and social problems).
Total IQ/GQ 53
145818702
147786647
1967946
GRCh37
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case1
51 yrs.
M
ASD and developmental delay
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: delayed teething. Behavioral/psychiatric evaluation: autism spectrum disorder, sleep disorder, stereotypies. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: cryptorchidism. Dysmorphic features: prominent forehead, deep-set eyes, broad nose, prognathism. Growth parameters: macrocephaly. Family history: no family history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145501912
148314590
2812679
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case11
2 yrs.
M
ASD, ADHD, and developmental delay
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: ADHD, autism spectrum disorder, sleep disorder, stereotypies. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: visual impairment, feeding difficulties, recurrent otitis. Dysmorphic features: widely spaced eyes, anteverted nares, long philtrum, retrognathia, low-set ears. Growth parameters: no abnormalities reported. Family history: no family history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145501912
148314590
2812679
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case12
2 yrs.
M
Birth/neonatal history: no abnormalities reported. Developmental milestones: no abnormalities reported. Language and communication evaluation: negative for language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: morning glory, cataract. Dysmorphic features: not determined. Growth parameters: no abnormalities reported. Family history: no family history of learning difficulties or psychomotor delay.
No history of learning difficulties or adapted education.
143398567
149605475
6206909
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case13
10 yrs.
F
ADHD
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: ADHD, auto/heteroaggressivity, sleep disorder, mood disorder/social behavior anomaly. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: amblyopia. Dysmorphic features: epicanthus, large nasal bridge, broad nose, long philtrum, low-set ears. Growth parameters: macrocephaly, excessive growth (length or weight). Family history: positive for a family history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
146564743
149079806
2515064
GRCh37
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case16
1 yr.
M
Birth/neonatal history: premature birth. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: none reported. Brain imaging: frontoparietal hydrocephaly, mild ventricular dilatation, dilated subarachnoidal spaces. Additional medical history: patent ductus arteriosus, recurrent otitis. Dysmorphic features: prominent forehead, thin eyebrows, widely spaced eyes, large nasal bridge, anteverted nares, low-set ears. Growth parameters: macrocephaly. Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
143398567
149605475
6206909
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case17
6 yrs.
M
Developmental delay
Birth/neonatal history: unspecified neonatal complication. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: mood disorder/social behavior anomaly. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: no additional abnormalities reported. Dysmorphic features: prominent forehead, deep-set eyes, epicanthus, widely spaced eyes, ptosis, large nasal bridge, long philtrum, low-set ears. Growth parameters: macrocephaly, excessive growth (length or weight). Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties.
146641601
149762976
3121376
GRCh37
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case18
3 yrs.
M
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: auto/heteroaggressivity. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: no additional abnormalities reported. Dysmorphic features: prominent forehead, thin eyebrows, epicanthus, broad nose, anteverted nares. Growth parameters: excessive growth (length or weight). Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties.
145740598
149224043
3483446
GRCh37
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case19
15 yrs.
M
Birth/neonatal history: unspecified neonatal complication. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: negative for language disorder. Motor and musculoskeletal evaluation: joint laxity, scoliosis, pectus excavatum, dural ectasia. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: one febrile seizure. Brain imaging: not determined. Additional medical history: visual impairment, striae distensae. Dysmorphic features: downslanted palpebral fissures, broad nose, low-set ears. Growth parameters: excessive growth (length or height) (suspicion of Marfan syndrome). Family history: no history of learning difficulties or psychomotor delay.
No history of learning difficulties or adapted education.
145313003
149535114
4222112
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case20
9 yrs.
M
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: negative for language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: mood disorder/social behavior anomaly. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: visual impairment, feeding difficulties. Dysmorphic features: downslanted palpebral fissures. Growth parameters: microcephaly. Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145313003
149535114
4222112
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case21
4 yrs.
M
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: mood disorder/social behavior anomaly. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: no additional abnormalities reported. Dysmorphic features: prominent forehead, large nasal bridge. Growth parameters: macrocephaly, excessive growth (length or weight). Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties.
145501912
148262736
2760825
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case22
15 yrs.
M
ADHD
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation:. Behavioral/psychiatric evaluation: ADHD, mood disorder/social behavior anomaly. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: hearing loss, strabismus, visual impairment. Dysmorphic features: prominent forehead, thin eyebrows, epicanthus, anteverted nares. Growth parameters: excessive growth (length or weight). Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
143398567
149605475
6206909
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case24
7 yrs.
M
ADHD, developmental delay, and seizures
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: seizures. Brain imaging: not determined. Additional medical history: visual impairment. Dysmorphic features: anteverted nares, long philtrum, low-set ears. Growth parameters: macrocephaly, excessive growth (length or weight). Family history: positive for learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
143398567
149605475
6206909
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case26
Fetus
F
Birth/neonatal history: intrauterine growth retardation, oligohydramnios, premature birth, death at 4 days. Family history: no history of learning difficulties or psychomotor delay.
145501912
148314590
2812679
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case27
Fetus
Birth/neonatal history: increased nuchal translucency, hygroma colli, generalized edema. No postnatal data was available for this individual. Family history: no history of learning difficulties or psychomotor delay.
145313003
149535114
4222112
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case28
12 yrs.
M
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: auto/heteroaggressivity, sleep disorder, mood disorder/social or behavioral anomalies. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: visual impairment. Dysmorphic features: thin eyebrows, hypotelorism, anteverted nares. Growth parameters: excessive growth (length or weight). Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145501912
148314590
2812679
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case29
4.5 yrs.
M
ADHD and developmental delay
Birth/neonatal history: unspecified neonatal complication. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: hearing loss. Dysmorphic features: prominent forehead, thin eyebrows, short palperbal fissures, hypotelorism, ptosis, low-set ears. Growth parameters: microcephaly. Family history: positive for learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
143398567
149605475
6206909
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case3
9 yrs.
M
ADHD and developmental delay
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: negative for language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: ADHD, mood disorder/social behavior anomaly. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: bicuspid aortic valve, inguinal/umbilical hernia, cryptorchidism. Dysmorphic features: not determined. Growth parameters: no abnormalities reported. Family history: positive for a history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145501912
148314590
2812679
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case30
12 yrs.
F
Developmental delay
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: 4-5 brachymetatarsia. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: visual impairment, recurrent ORL infections. Dysmorphic features: large nasal bridge, broad nose. Growth parameters: obesity, short stature, failure to thrive. Family history: no history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145501912
148262736
2760825
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case31
0.7 yrs.
F
Birth/neonatal history: premature birth. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: negative for language disorder. Motor and musculoskeletal evaluation: right radial agenesia, unilateral absent thumb, butterfly vertebral arch. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: atrial septal defect, ventricular septal defect, strabismus, visual impairment, feeding difficulties, recurrent otitis. Dysmorphic features: prominent forehead, deep-set eyes, widely spaced eyes, anteverted nares, retrognathia, low-set ears. Growth parameters: microcephaly, excessive growth (length or weight), failure to thrive. Family history: no history of learning difficulties or psychomotor delay.
No history of learning difficulties or adapted education.
146146404
149357695
3211292
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case32
0.3 yrs.
F
Birth/neonatal history: no abnormalities reported. Developmental milestones: no psychomotor delay reported. Language and communication evaluation: negative for language disorder. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no abnormalities reported. Epilepsy/seizures: none reported. Brain imaging: no abnormalities reported. Additional medical history: gastroesophageal reflux, feeding difficulties. Dysmorphic features: prominent forehead, broad nose, thin lips, long philtrum, retrognathia, low-set ears. Growth parameters: short stature, failure to thrive. Family history: no history of learning difficulties or psychomotor delay.
No history of learning difficulties or adapted education.
145313003
149535114
4222112
GRCh38
Deletion
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case5
2 yrs.
F
Developmental delay
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Langauge and communication evaluation: langauge disorder. Motor and musculoskeletal evaluation: joint laxity. Behavioral/psychiatric evaluation: auto/heteroaggressivity, mood disorder/social behavior anomaly. Epilepsy/seizures: none reported. Brain imaging: dilated Virchow-Robin spaces. Additional medical history: visual impairment. Dysmorphic features: prominent forehead, epicanthus, upslanted palpebral fissures, widely spaced eyes, large nasal bridge, anteverted nares, long philtrum, low-set ears. Growth parameters: no abnormalities reported. Family history: positive for a history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145501912
148314590
2812679
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case6
7 yrs
F
ADHD and developmental delay
Birth/neonatal history: unspecified neonatal complication. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: thoracic gibbosity. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: bicsupid aortic valve, visual impairment. Dysmorphic features: thin eyebrows, widely spaced eyes, large nasal bridge, broad nose, long philtrum. Growth parameters: no abnormalities reported. Family history: positive for a history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
145501912
148314590
2812679
GRCh38
Duplication
Yes
bourgois_23_ASD/ADHD/DD_discovery_cases-case7
8 yrs.
F
ADHD
Birth/neonatal history: no abnormalities reported. Developmental milestones: not determined. Language and communication evaluation: not determined. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: ADHD, mood disorder/social behavioral anomaly. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: inguinal/umbilical hernia. Dysmorphic features: thin eyebrows, large nasal bridge, broad nose, anteverted nares, long philtrum, low-set ears. Growth parameters: failure to thrive. Family history: no family history of learning difficulties or psychomotor delay.
Adapted education.
145313003
149535114
4222112
GRCh38
Duplication
Yes
ceylan_18_DD/ID_discovery_cases-case2
4 mos.
N/A
MCA
Developmental milestones: unknown. Dysmorphic features: wide nasal bridge, bulbous nose and retrognathia. Other findings: pectoral muscle hypoplasis, radius and humerus hypoplasis, short and curved ribs.
145927661
148588367
2600000
GRCh37
Deletion
No
ceylan_19_DD/ID_discovery_cases-case1
9 yrs.
M
DD and ID
Birth/neonatal history: pregnancy complicated by fetal distress, delivery by caesarean section at 38 weeks of gestation; birth weight 3200 g (25th-50th %ile). Developmental milestones: developmental delay (could hold head up at 2 months, sit unaided at 6 months, and walk independently at 1.5 years; began to talk at 6 years); delayed ability to walk; speech delay. Behavioral/psychiatric evaluation: aggressive behavior. Epilepsy/seizures: none. Brain imaging: normal brain MRI. Dysmorphic features: thick eyebrows in the lateral portion, simple ears, single transverse palmar crease on the right hand. Growth parameters: short stature, microcephaly; height 121 cm (< 3rd %ile), weight 28 kg (25th-50th %ile), OFC 49 cm (-2.7 SD). Family history: first male child of healthy consanguineous Turkish parents; 1q21.1-q21.2 deletion was inherited from healthy father.
Moderate intellectual disability (WISC-R)
146507518
147824207
1316000
GRCh37
Deletion
No
ceylan_19_DD/ID_discovery_cases-case2
6 yrs.
F
DD and ID
Birth/neonatal history: born at 40 weeks of gestation; birth weight 2750 g. Developmental milestones: developmental delay (able to sit without support at 15 months, walk at 3.5 years, and speak at 4 years); delayed ability to walk; speech delay.. Brain imaging: normal brain MRI. Visual evaluation: bilateral strabismus (surgically corrected). Dysmorphic features: bilateral epicanthus, deep-set eyes, wide nasal bridge, bulbous nose, retrognathia. Growth parameters: microcephaly; height 110 cm (< 3rd %ile), weight 17 kg (< 3rd %ile), OFC 47 cm (-3.1 SD). Family history: born to healthy non-consanguineous Turkish parents (fifth pregnancy). Karyotype: case had a 28% mosaic marker chromosome derived from chromosome 1 based on routine G-banded karyotyping; case also had an approximately 19-Mb mosaic duplication in the 1q21-q23.3 region.
Moderate intellectual disability (WISC-R)
146507518
147824207
1316000
GRCh37
Deletion
Yes
ceylan_19_DD/ID_discovery_cases-case3
6 yrs.
M
ASD and intellectual disability
Birth/neonatal history: born at 36 weeks of gestation; birth weight 2200 g. Developmental milestones: able to hold head up at 9 months, sit unaided at 9 months, and walk independently at 15 months; speech delay (started to speak at 3 years). Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder at 6 years. Epilepsy/seizures: none. Brain imaging: normal brain MRI. Dysmorphic features: broad forehead, synophrys, bilateral epicanthus, ptosis. Growth parameters: microcephaly; height 116 cm (50th %ile), weight 24 kg (50th-75th %ile), OFC 48 cm (-2.8 SD). Family history: first child of non-consanguineous Turkish parents; 1q21.1-q21.2 deletion inherited from unaffected mother.
Moderate intellectual disability (WISC-R)
146347096
147824207
1477000
GRCh37
Deletion
Yes
ceylan_19_DD/ID_discovery_cases-case4
2.5 yrs.
F
Developmental delay
Birth/neonatal history: born full-term by caesarean section; birth weight 2800 g (10th-25th %ile). Developmental milestones: normal speech and motor development; started walking at 13 months. Motor and musculoskeletal evaluation: normal neurological findings. Visual evaluation: iris coloboma. Dysmorphic features: hypertelorism, broad forehead, thin lips, retrognathia. Growth parameters: weight 10 kg (< 3rd %ile), height 84 cm (3rd-10th %ile), OFC 46 cm (-1.39 SD). Family history: first child of non-consanguineous Turkish parents.
146347096
147824207
1477000
GRCh37
Deletion
No
ceylan_19_DD/ID_discovery_cases-case5
40 days
F
Developmental delay
Birth/neonatal history: born at 39 weeks of gestation; birth weight 2600 g; neonatal feeding difficulties (monitored in ICU for 1 month). Developmental milestones: unable to hold head up at 5 months. Motor and musculoskeletal evaluation: pectoral muscle hypoplasia, contractures at the left elbow, radius hypoplasia, short humerus, radioulnar synostosis, three short curved ribs. Brain imaging: normal. Additional medical history: feeding difficulties noted at 5 months; died at 6 months due to pneumonia. Dysmorphic features: wide nasal bridge, bulbous nose, retrognathia. Growth parameters: weight 2.5 kg (< 3rd %ile), OFC 35 cm (-2.1 SD). Family history: born to healthy consanguineous Turkish parents (third pregnancy); 1q21.1-q21.2 deletion inherited from healthy mother.
145927661
148588367
2660000
GRCh37
Deletion
No
ceylan_19_DD/ID_discovery_cases-case6
17 yrs.
M
Intellectual disability and autistic features
Birth/neonatal history: birth weight 3600 g (50th-75th %ile). Developmental milestones: could sit up unaided at 10 months, walked independently at 14 months; speech delay (began to speak at 7 years). Language and communication evaluation: speech limited to three words. Motor and musculoskeletal evaluation: fetal finger pads, broad thumbs, flat arch on left foot, scoliosis. Behavioral/psychiatric evaluation: autistic features. Brain imaging: normal brain MRI. Dysmorphic features: elongated face, synophrys, thick eyebrows, full lips, open mouth, prognathism. Growth parameters: height 165 cm (10th-25th %ile), weight 55 kg (10th-25th %ile), OFC 54 cm (0 SD). Family history: first child of healthy non-consanguineous Turkish parents.
Moderate intellectual disability (WISC-R); difficulty performing daily tasks
145215697
149082254
3866558
GRCh38
Deletion
No
ceylan_19_DD/ID_discovery_cases-case8
5 yrs.
F
DD and ID
Birth/neonatal history: born at 29 weeks of gestation; birth weight 940 g. Developmental milestones: delayed ability to walk (unable to sit up or walk without support at 5 years); limited or absent speech. Brain imaging: brain MRI showed hydraencephaly with no remaining cortical tissue with preserved thalami and posterior fossa, brainstem hypoplasia, vermian hypoplasia. Visual evaluation: refractive error. Dysmorphic features: bilateral epicanthus, deep-set eyes, hypertelorism, bulbous nose, triangular face, facial asymmetry. Growth parameters: microcephaly; height 107 cm (25th-50th %ile), weight 15 kg (3rd-10th %ile), OFC 46 cm (-3.1 SD). Family history: born to healthy consanguineous Turkish parents (father did not have persistent cognitive problems but did have a history of speech delay); case had a twin that died at 24 weeks of gestation.
Severe intellectual disability
146347156
148575046
2227000
GRCh37
Duplication
Yes
chan_22_ASD_discovery_cases-case3-0440-000
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: initial failure to thrive with normal weight gain by 6 months. Language and communication evaluation: no communicative speech with echolalia and gibberish at 3 years, followed by usage of short sentences at 4 years 2 months. Dysmorphic features: parietal bossing, large ears, small epicanthal folds. Growth parameters: macrocephaly (head circumference +3.5 SD). Family history: born to a 16-year-old G1P0 mother and 16-year-old father, his mother had no neurodevelopmental phenotype apart of delayed early motor milestones (walked at 3 years).
146994455
148359867
1365413
GRCh38
Duplication
No
chaves_19_ASD/DD/ID_discovery_cases-case264
N/A
M
ASD
Hyperactivity, behavioral disorder, speech and/or language delay or impairment, autism spectrum disorder, and learning disability
Learning disability
146496425
147819815
1323391
GRCh37
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case828
M
Intellectual disability
Strabismus, protruding ears. Brother of case #829
Intellectual disability
145313004
149535114
4222111
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case829
M
Intellectual disability
Strabismus, protruding ears. Brother of case #828
Intellectual disability
145313004
149535114
4222111
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case970
F
ASD
ASD.
145313004
149535114
4222111
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case1
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
143547265
149705355
6158091
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case33
NA
M
ASD and ADHD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with ADHD.
143547265
149866918
6319654
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case58
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
143547265
149705355
6158091
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP32
NA
M
ASD, developmental delay, and intellectual disability
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech delay (absent speech), intellectual disability, mild hearing loss, irritability, food selectivity.
Intellectual disability
145899339
147824207
1924869
GRCh37
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300650
N/A
M
Developmental delay/intellectual disability
146564743
147735011
1170269
GRCh37
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_301263
N/A
M
Developmental delay/intellectual disability
146347096
147786706
1439611
GRCh37
Deletion
Yes
fan_19_ASD_discovery_cases-caseASD227
6 yrs. 4 mos.
M
ASD
CARS score 34 (mild severity)
146106724
147926347
1820000
GRCh37
Deletion
No
fan_19_ASD_discovery_cases-caseASD278
3 yrs. 8 mos.
M
ASD
CARS score 39 (severe severity)
147026803
147927032
900230
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0008074
N/A
F
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
147161712
147909267
747556
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0034531
N/A
M
ASD
Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
147159564
147909267
749704
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259657
N/A
F
Developmental delay
Global developmental delay; Microcephaly; Seizures
145765433
148250973
2485540
GRCh37
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261202
N/A
F
Developmental delay
Brachycephaly; Gastroesophageal reflux; Delayed speech and language development; Global developmental delay
145752381
148936712
3184331
GRCh37
Deletion
No
gourari_18_ASD/EP_discovery_cases-case1
10 yrs.
F
ASD and epilepsy
Language and communication evaluation: minimal communicative language skills. Behavioral/psychiatric evaluation: low-functioning autism spectrum disorder. Epilepsy/seizures: focal motor epilepsy; seizures started at 7 years of age and consisted of head deviation to the left, generalized stiffening, clonic activity of the mouth, and fluttering of the eyelids, lasting for 1-2 minutes; patient has been seizure-free for nearly 1 year since switching to a regimen of lamotrigine and caffeine-free diet. EEG: right temporal focus with a less active, independent left temporal focus. Brain imaging: normal 3T MRI scan of the brain. Dysmorphic features: hypertelorism. Growth parameters: macrocephaly (head circumference 57 cm, +3.6 SD, > 99th %ile). Family history: parents were unaffected.
146503349
147819438
1300000
GRCh37
Duplication
No
granata_25_ASD_discovery_cases-caseA050
F
ASD
Case diagnosed with ASD based on DSM-5 criteria.
145501913
148400159
2898247
GRCh38
Deletion
No
granata_25_ASD_discovery_cases-caseA054
M
ASD
Case diagnosed with ASD based on DSM-5 criteria.
145501913
148381736
2879824
GRCh38
Duplication
No
granata_25_ASD_discovery_cases-caseA124
M
ASD
Case diagnosed with ASD based on DSM-5 criteria.
145313004
149535114
4222111
GRCh38
Duplication
No
gregory_09_ASD_discovery_cases-200411180
NA
ASD
NA
NA
145215697
148492647
3276951
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-516-03
N/A
M
ASD and intellectual disability
Intellectual disability
146310201
148225800
1915600
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case16D0745
12 mos. 19 days
F
Developmental delay/Intellectual disability
145792052
147418368
1626317
GRCh37
Duplication
No
hnoonual_17_ASD_discovery_cases-caseAR82-3
N/A
M
ASD
Macrocephaly
146571244
147825548
1250000
GRCh37
Duplication
No
husson_20_ASD_discovery_cases-case52
8 yrs.
M
ASD
Diagnosis of ASD
146500897
147806796
1305899
GRCh37
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000881
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
147134175
148035479
901304
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002484
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
145867261
148080249
2212988
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005372
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146575810
148029600
1453790
NCBI36
Duplication
Yes
krumm_15_ASD_discovery_cases-case12265.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
146631132
149278127
2646995
GRCh37
Duplication
Yes
krumm_15_ASD_discovery_cases-case12420.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
145748337
147381384
1633047
GRCh37
Duplication
Yes
krumm_15_ASD_discovery_cases-case12803.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
145747043
147465149
1718106
GRCh37
Duplication
Yes
krumm_15_ASD_discovery_cases-case12907.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
146631132
147580941
949809
GRCh37
Duplication
Yes
krumm_15_ASD_discovery_cases-case13507.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
145748337
147465149
1716812
GRCh37
Deletion
Yes
krumm_15_ASD_discovery_cases-case13975.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
146631132
149206303
2575171
GRCh37
Duplication
Yes
kucinska_24_ASD_discovery_cases-case8
M
ASD, developmental delay, and intellectual disability
Atypical autism, motor development delay, aggressive behavior
Moderate intellectual disability
144391271
149605475
5214205
GRCh38
Deletion
No
kushima_22_BPD_discovery_cases-caseBD0501
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
145601945
149490594
3888650
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1260
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
145601945
148108891
2506947
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1832
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
145601945
148108891
2506947
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0194
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145501912
148427734
2925823
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0288
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145501912
148427734
2925823
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0503
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145501912
148427734
2925823
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0690
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145601945
148081163
2479219
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0952
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145501912
148427734
2925823
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1792
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
144391270
149605475
5214206
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2104
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145501912
148257619
2755708
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2447
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145601945
148108891
2506947
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2563
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145601945
149490594
3888650
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2714
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
145501912
148257619
2755708
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3057
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
144391270
149605475
5214206
GRCh38
Deletion
Yes
lai_24_DD/ID_discovery_cases-case28
6 yrs. 5 mos.
M
Intellectual disability
Hydronephrosis
Intellectual disability
146995000
147944148
949149
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400108
N/A
M
ASD
Diagnosis of Asperger syndrome (ADOS=15). Additional medical history: Wilm's tumor (tumor of the kidney).
Full-scale IQ 93
146312896
147416267
1103370
GRCh37
Duplication
No
leite_22_DD/ID_discovery_cases-case038
9 yrs.
M
Developmental delay
Global developmental delay, multiple stigmas
145895746
147819294
1923549
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU1145301
N/A
N/A
ASD
SRS total score unmeasurable
Raven's non-verbal IQ unmeasurable
146476526
147826658
1350000
GRCh37
Deletion
No
leppa_16_ASD_discovery_cases-AU1163303
N/A
F
ASD
146500000
147800000
1300000
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU1163304
N/A
M
ASD
Raven's non-verbal IQ 88
146500000
147800000
1300000
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU1301301
N/A
N/A
ASD
SRS total score 93, Vineland 235
Raven's non-verbal IQ 97, PPVT 87
146652637
147826658
1174000
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU1688302
N/A
M
ASD
Raven's non-verbal IQ unmeasurable
146501000
147827000
1300000
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU3721301
N/A
M
ASD
146089000
148004000
1900000
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU3721302
N/A
M
ASD
146089000
148004000
1900000
GRCh37
Duplication
No
leppa_16_ASD_discovery_cases-AU4024303
N/A
N/A
ASD
146499479
147830375
1331000
GRCh37
Duplication
No
mahjani_21_ASD_discovery_cases-case171
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
147035072
148330880
1295809
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case172
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
146089254
147803005
1713752
GRCh37/hg19
Duplication
No
mahjani_21_ASD_discovery_cases-case173
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
147029795
148354661
1324867
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case6
NA
M
OCD
Case diagnosed with obsessive compulsive disorder (OCD) at 23 years of age.
144391270
149605475
5214206
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case173
2 yrs.
M
Developmental delay
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: bulbous hallux of the toes, 2nd toe clinodactyly. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: neurological anomalies, ocular anomalies, skin softness/joint laxity. Dysmorphic features: frontal bossing. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Not reported
146564753
147786706
1200000
GRCh37
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case74
12 yrs.
M
Language delay and language disorder
Birth history: born at 38 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: pes planus, skeletal anomalies. Behavioral/psychiatric evaluation: psychiatric illness. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: short philtrum, large nasal tip, thick alae nasi, everted lower lip, posteriorly rotated ears. Growth parameters: normal head circumference, somatic overgrowth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Normal (no intellectual disability or learning disorder)
146564753
147786706
1200000
GRCh37
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown96
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
146564743
149224043
2700000
GRCh37
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown97
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, reported as 1q21.1 in Supplementary Table 1
143721555
149699390
5900000
GRCh37
Deletion
No
matthews_17_ASD_discovery_cases-case1
12 yrs.
M
ASD and spastic paraplegia
Case diagnosed with autism spectrum disorder (ASD) and anxiety. Birth/neonatal history: uncomplicated pregnancy with no teratogen exposure and normal prenatal ultrasounds; birth by spontaneous vaginal delivery at 39 weeks to a G1P1L1 32-year-old mother with fetal extraction due to fetal distress; Apgar scores of 9 and 9 at 1 and 5 minutes; birth weight of 3.75 kg (50th-85th %ile), birth length of 54.5 cm (85th-97th %ile), and OFC of 34.5 cm (10th-25th%ile). Developmental milestones: global developmental delay and floppiness noted (able to lift up head and roll at 12 months, able to sit unsupported at 32 months); described as having motor delay and speech delay when first seen at 12 months; significant developmental regression with loss of oral motor skills (eating), fine motor skills, and communication function following surgery at 10 years (non-verbal communication skills subsequently recovered). Language and communication evaluation: absent speech (nonverbal); communication takes place with arm lifting movements. Motor and musculoskeletal evaluation: described at 12 months as having cerebral palsy with central hypotonia and increased peripheral tone; calf atrophy; small hands (< 3rd %ile) and small feet (< 3rd %ile); disordered eye movements; significant drooling (treated with glycopyrrolate); spastic paralysis first observed at 1 years (initially as spastic diplefgia with normal upper-extremity function, then progressing to a state of ascending spastic tetraplegia with significant accompanying contractures); minimal finger movement; poor head control; uses wheelchair full-time for mobility; significant paralytic scoliosis; muscle biopsy during orthopedic surgery identified reductions in complex 2 and 4 activities (however, not indicative of respiratory chain defect); non-specific pathological changes in skeletal muscle as clusters of inflammation in formalin fixed paraffin embedded muscle detected by electron microscopy (however, not consistent with inflammatory myopathy). Behavioral/psychiatric evaluation: ASD, anxiety. Epilepsy/seizures: none reported. EEG: EEG performed due to head dropping at 4 years 2 months showed bi-frontal and right posterior temporal slowing with no epileptiform discharge or seizure activity. Brain imaging: unremarkable CT scan and MRI scan with spectroscopy at 3 years, unremarkable MRS at 8 years. Vision and hearing evaluation: both vision and hearing were tested and were normal. Additional medical history: underwent surgical reduction of a dysplastic hip with a varus derotation osteotomy or proximal femur with tendon release at 10 years; nasogastric tube feeding started at 3 years to supplement oral eating, with gastrostomy tube insertion at 5 years; chronic gastroesophageal reflux, chronic non-obstructive constipation; history of recurrent urinary tract infections; precocious adrenarche at 8 years of age; supraventricular tachycardia following surgery at 10 years (currently maintained on propranol with subsequent ECGs showing normal sinus rhythm); severe obstructive sleep and central apnea (as determined by polysomnography at 11 years). Dysmorphic features: dolichocephaly, hypertelorism, macrostomia. Growth parameters: unremarkable. Family history: only child of healthy, non-consanguineous parents of Canadian: British-Scottish (maternal) and Portuguese (paternal) descent; family history unremarkable for spastic paralysis and neurological disorders; maternal uncle with Asperger syndrome; paternal great-grandfather's sister with cerebral palsy-like symptoms post-fever (developed at 9 months, later confined to a wheelchair). Additional genetic information: case also has a de novo mosaic mutation in the SPAST gene with two novel alternative alleles (both predicted to be damaging and classified as Likely Pathogenic).
Modified education program
146105170
147823369
1730000
GRCh37
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530433
M
Developmental delay
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999), morphological central nervous system abnormality (HP:0002011).
146234588
148784587
2550000
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530443
M
MCA
Abnormal facial shape (HP:0001999), orofacial cleft (HP:0000202).
146334588
148484587
2150000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530444
M
Autism and seizures
Atypical behavior (HP:0000708), autism (HP:0000717), seizure (HP:0001250).
146384588
148709587
2325000
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530445
M
Autism and developmental delay
Global developmental delay (HP:0001263), atypical behavior (HP:0000708), autism (HP:0000717), autistic behavior (HP:0000729), poor speech (HP:0002465), abnormal facial shape (HP:0001999), macrocephaly (HP:0000256)
146284588
148884587
2600000
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530446
M
Autism and intellectual disability
Atypical behavior (HP:0000708), autism (HP:0000717), autistic behavior (HP:0000729)
Intellectual disability (HP:0001249).
146984588
149184587
2200000
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case59
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
145501912
148439136
2937225
GRCh38
Deletion
No
monteiro_19_ASD_discovery_cases_case2
N/A
M
ASD, DD, ID, and epilepsy
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Epilepsy/seizures: epilepsy. Dysmorphic features: none reported.
Intellectual disability
146506310
147824207
1318000
GRCh37
Duplication
No
monteiro_19_ASD_discovery_cases_case3
5 yrs,
M
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: none reported. Family history: 1q21.1-q21.2 duplication inherited from a healthy parent.
Intellectual disability
146506310
149243967
2738000
GRCh37
Duplication
No
mosrati_12_ASD/MR_discovery_cases-caseV5
26 yrs.
M
Autistic traits
Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
No mental retardation
147282617
148015559
732942
Unknown
Deletion
No
mosrati_12_ASD/MR_discovery_cases-caseV6
22 yrs.
F
Mental retardation
Behavioral and psychiatric evaluation: no autistic traits. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; two brothers with autistic traits and hearing loss (one brother with additional diagnosis of mental retardation).
Moderate mental retardation (MR)
146418803
148054154
1635351
Unknown
Deletion
No
munnich_19_ASD_discovery_cases-case21
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
146324068
149079826
2700000
GRCh37
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248281
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Dyscalculia, enuresis, intellectual disability/developmental delay, nevi or lentigines, pectus excavatum, ptosis of eyelids
Developmental delay/intellectual disability
145121545
155038743
9917198
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248950
N/A
F
Developmental delay (speech delay)
Database: DECIPHER. Indication for study: Cataract, large tongue, speech delay
Developmental delay
144865626
149711434
4845808
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249001
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Agenesis/hypoplasia of corpus callosum, asymmetric face, brachycephaly, broad halux, craniosynostosis, cupid bow shape of mouth, dysplastic ears, flat occiput, hypospadias, joint contractures, mandible, intellectual disability/developmental delay, microcephaly, microstomia, palperbral fissures slant down, plagiocephaly/asymmetrical skull, prominent ear helix, ptosis of eyelids, short neck and toes.
Developmental delay/intellectual disability
147026221
147910423
884203
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249919
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145413388
147735011
2321623
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250214
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Broad base to nose, deafness, diffuse depigmentation of skin, down-turned corners of the mouth, feeding problems in infants, hypercalcaemia, low birthweight (<3rd centile), intellectual disability/developmental delay, microcephaly, renal dysplasia, short philtrum, short stature, urinary reflux, wide forehead.
Developmental delay/intellectual disability
145388355
147851297
2462942
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251690
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Developmental delay/intellectual disability
144526867
148643339
4116472
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252442
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145413388
147735011
2321623
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252458
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
146564743
147735011
1170268
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252459
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
145413388
149192104
3778716
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
143700200
149699391
5999191
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253792
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Cryptorchid testes, duane anomaly, intellectual disability/developmental delay, protruding tongue, short stature
Developmental delay/intellectual disability
144927778
148867610
3939832
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255780
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
120462276
248918469
128456194
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-259331
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
144927778
147735011
2807233
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-261058
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
144995225
147786706
2791481
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-983
N/A
F
MCA
Database: DECIPHER. Indication for study: Absent uterus, fused labia, vaginal atresia
145438616
147876062
2437446
GRCh37
Duplication
N/A
pfundt_16_nonNDD_discovery_cases-case30
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: 1q21.1 deletion
145811341
148577825
2766484
GRCh37
Deletion
No
pfundt_16_nonNDD_discovery_cases-case94
N/A
N/A
Non-NDD
Disease cohort: muscle disorder. Description: 1q21.1 recurrent microduplication
145816636
147410932
1594296
GRCh37
Duplication
No
pfundt_16_nonNDD_discovery_cases-case97
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: 1q21.1 deletion
145816636
147410932
1594296
GRCh37
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_402
4 yrs.
M
Developmental delay
Short stature
Global developmental delay
146156348
147929323
1772976
GRCh37
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_405
13 yrs.
F
Intellectual disability
Dysmorphic facial features
Intellectual disability
145041051
147830830
2789780
GRCh37
Duplication
No
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH12
5 mos.
M
MCA
Additional medical history: pulmonary atresia with intact ventricular septum. Family history: mother with ADHD.
147059988
148254271
1194284
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case78
15 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
146507518
147824207
1317000
GRCh37
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case188
NA
M
Developmental delay
Global developmental delay, facial dysmorphism.
145313003
149535114
4222112
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case219
NA
M
ASD and intellectual disability
Autism spectrum disorder, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
145313003
149535114
4222112
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case230
NA
M
ASD and intellectual disability
Autism spectrum disorder, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
143700143
149754257
6054115
GRCh37
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case310
NA
M
Developmental delay
Developmental delay, ventricular septal defect, facial dysmorphism
146089268
149376652
3287385
GRCh37
Deletion
No
wu_24_ASD/ADHD/DD/ID_discovery_cases-case53
1.9 yrs.
M
ASD, developmental delay/intellectual disability, and epilepsy
Severe-profound global developmental delay/intellectual disabillity, comorbid diagnosis of ASD, comorbid epilepsy (generalized seizures, generalized tonic-clonic seizures), abnormal brain MRI (demyelination, periventricular leukomalacia), abnormal EEG (generalized spikes, focal discharges), dysmorphic facial features (ptosis, hypertelorism, broad nasal bridge), microcephaly, hypercholesterolemia, short stature (height <-3 SD).
Severe-profound global developmental delay/intellectual disability
145313004
149535114
4222111
GRCh38
Deletion
Yes
wu_24_ASD/ADHD/DD/ID_discovery_cases-case70
2.2 yrs.
M
ASD, developmental delay/intellectual disability, and epilepsy
Severe-profound global developmental delay/intellectual disability, comorbid diagnosis of ASD, comorbid epilepsy (generalized seizures, generalized tonic-clonic seizures), abnormal brain MRI (cerebral white matter changes, ventriculomegaly), abnormal EEG (generalized spikes, focal discharges), dysmorphic facial features (low-set ears, hypertelorism, broad nasal bridge), microcephaly.
Severe-profound global developmental delay/intellectual disability
145313004
149535114
4222111
GRCh38
Deletion
Yes
yuan_23_ASD_discovery_cases-qma01577s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
147042701
147670300
627600
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0382-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
146492000
147834000
1342000
GRCh37
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-1306-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
146492000
147914000
1422000
GRCh37
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1306-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
146492000
147914000
1422000
GRCh37
Deletion
Yes
yuen_17_ASD_discovery_cases-case7-0028-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
146466001
147832000
1365999
GRCh37
Duplication
Yes
yuen_17_ASD_discovery_cases-caseAU3721301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
146461001
147832000
1370999
GRCh37
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3721302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
146461001
147832000
1370999
GRCh37
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3807302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
146466001
147832000
1365999
GRCh37
Duplication
No
yuen_17_ASD_discovery_cases-caseAU4024303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
146467001
147832000
1364999
GRCh37
Duplication
No
yuen_17_ASD_discovery_cases-caseAU4361303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
146465501
147832000
1366499
GRCh37
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0382-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
146016527
147897962
1881436
GRCh37
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1287-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
146112081
147929323
1817243
GRCh37
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case214098
N/A
F
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disabilty, generalized anxiety disorder
145895747
147929323
2033577
GRCh37
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0029-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
146016527
147867742
1851216
GRCh37
Duplication
Yes
zhang_23_ASD/DD/ID_discovery_cases-caseASD0343
5 yrs.
M
ASD, developmental delay, and intellectual disability
Case clincially diagnosed with ASD according to DSM-V criteria. Additional clinical features: language delay, hyperactivity. Family history: CNV inherited from mother with congenital heart disease.
Intellectual disability, learning disabilities, cognitive disorders
143691670
148830060
5138391
GRCh37
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control20029
N/A
M
Control
Control
146330584
147814694
1484111
GRCh37
Duplication
No
krumm_15_ASD_discovery_controls-control13507.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
145748337
147465149
1716812
GRCh37
Deletion
Yes
leblond_19_ASD_discovery_controls-siblingPN400170
N/A
M
Control
Unaffected sibling of an ASD case
146312896
147806796
1493900
GRCh37
Duplication
No
leppa_16_ASD_discovery_controls-AU1163302
N/A
M
Control
Unaffected sibling
146500000
147800000
1300000
GRCh37
Duplication
No
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-case13
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
akkus_24_ASD/DD/ID_discovery_cases-case38A
Unknown
BCL9,FMO5,ACP6,PDIA3P1,GJA5,GJA8,OR13Z3P,OR13Z1P,OR13Z2P,CCT8P1,NBPF13P,RPL7AP15,LINC00624,PRKAB2,RN7SL261P,CHD1L
akkus_24_ASD/DD/ID_discovery_cases-case65A
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-27,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
akkus_24_ASD/DD/ID_discovery_cases-case65A
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
annunziata_21_ASD_discovery_cases-caseIB257
qPCR, FISH
Maternal
BCL9,FMO5,RNVU1-7,GPR89B,ACP6,NBPF12,PDIA3P1,NBPF11,GJA5,GJA8,OR13Z2P,OR13Z3P,OR13Z1P,CCT8P1,NBPF13P,ABHD17AP1,GPR89A,PFN1P4,PDZK1P1,LINC00624,HYDIN2,PFN1P8,RNVU1-8,PRKAB2,RN7SL261P,RNA5SP57,RNU1-129P,CHD1L
bourgois_23_ASD/ADHD/DD_discovery_cases-case1
RT-qPCR
Maternal
Simplex
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case11
RT-qPCR
Maternal
Simplex
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case12
RT-qPCR
Maternal
Simplex
BCL9,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,FAM72C,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,NKAIN1P1,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,RNA5SP533,LINC02799,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case13
RT-qPCR
Paternal
BCL9,FMO5,DRD5P2,GPR89B,ACP6,PFN1P3,PDIA3P1,GJA8,GJA5,NBPF15,LINC01138,OR13Z1P,OR13Z3P,OR13Z2P,CCT8P1,PFN1P6,NBPF13P,PPIAL4D,PPIAL4F,PPIAL4A,ABHD17AP1,PFN1P4,PPIAL4E,NBPF20,LINC00624,NKAIN1P1,PRKAB2,RNVU1-14,RNVU1-15,RN7SL261P,RNA5SP59,RNU1-129P,CHD1L,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case16
RT-qPCR
Maternal
Simplex
BCL9,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,FAM72C,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,NKAIN1P1,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,RNA5SP533,LINC02799,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case17
RT-qPCR
Maternal
Simplex
BCL9,FMO5,FCGR1A,DRD5P2,RNVU1-18,GPR89B,ACP6,LINC00869,PFN1P3,PDIA3P1,GJA8,GJA5,NBPF15,LINC01138,OR13Z1P,OR13Z3P,OR13Z2P,FAM72C,CCT8P1,PFN1P6,PPIAL4D,PFN1P12,PPIAL4F,PPIAL4A,ABHD17AP1,PPIAL4C,PFN1P4,PPIAL4E,NBPF20,LINC00624,NKAIN1P1,PRKAB2,RNVU1-14,RNVU1-19,RNVU1-17,RNVU1-20,RNVU1-15,RN7SL261P,RNA5SP59,RNU1-68P,RNU1-143P,RNU1-129P,RNU1-114P,CHD1L,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case18
RT-qPCR
Maternal
Simplex
BCL9,FMO5,DRD5P2,RNVU1-7,GPR89B,ACP6,NBPF12,PFN1P3,NBPF11,PDIA3P1,GJA8,GJA5,NBPF15,LINC01138,OR13Z1P,OR13Z3P,OR13Z2P,CCT8P1,PFN1P6,NBPF13P,PPIAL4D,PFN1P12,GPR89A,PPIAL4F,PPIAL4A,ABHD17AP1,PFN1P4,PDZK1P1,PPIAL4E,NBPF20,LINC00624,HYDIN2,NKAIN1P1,PFN1P8,RNVU1-8,PDZK1,PRKAB2,RNVU1-14,RNVU1-17,RNVU1-15,RN7SL261P,RNA5SP59,RNA5SP57,RNU1-129P,RNU1-114P,CHD1L,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case19
RT-qPCR
De novo
Simplex
Segregated
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case20
RT-qPCR
Maternal
Simplex
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case21
RT-qPCR
Maternal
Simplex
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNA5SP57,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case22
RT-qPCR
Paternal
Simplex
BCL9,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,FAM72C,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,NKAIN1P1,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,RNA5SP533,LINC02799,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case24
RT-qPCR
Maternal
BCL9,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,FAM72C,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,NKAIN1P1,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,RNA5SP533,LINC02799,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case26
RT-qPCR
Paternal
Simplex
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case27
RT-qPCR
Paternal
Simplex
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case28
RT-qPCR
Paternal
Simplex
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case29
RT-qPCR
Maternal
BCL9,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,FAM72C,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,NKAIN1P1,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,RNA5SP533,LINC02799,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case3
RT-qPCR
Maternal
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case30
RT-qPCR
Paternal
Simplex
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNA5SP57,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case31
RT-qPCR
Paternal
Simplex
BCL9,FMO5,RNVU1-7,RNVU1-2,ACP6,GPR89B,NBPF12,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,RNVU1-8,PRKAB2,RNVU1-1,RNVU1-3,SEC22B4P,MIR6077,LINC02804,PPIAL4H,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNVU1-25,RNU1-155P,RNVU1-27,RNVU1-29,CHD1L,PDE4DIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case32
RT-qPCR
Paternal
Simplex
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
bourgois_23_ASD/ADHD/DD_discovery_cases-case5
RT-qPCR
Maternal
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case6
RT-qPCR
Maternal
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
bourgois_23_ASD/ADHD/DD_discovery_cases-case7
RT-qPCR
Unknown
Simplex
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
ceylan_18_DD/ID_discovery_cases-case2
Maternal
PDZK1P1,RNU1-137P,RP11-94I2.4,RNVU1-7,RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10,PPIAL4A,RP3-328E19.5,RNVU1-13,RP3-328E19.4,NBPF14,RP11-289I10.2,PPIAL4D,RP11-289I10.3,RNVU1-14,RP11-89F3.2,NBPF20,PFN1P3,RP11-666A1.4,PFN1P6
ceylan_19_DD/ID_discovery_cases-case1
Paternal
Simplex
Not segregated
NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
ceylan_19_DD/ID_discovery_cases-case2
qPCR
De novo
Simplex
Segregated
NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
ceylan_19_DD/ID_discovery_cases-case3
qPCR
Maternal
Simplex
Not segregated
HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
ceylan_19_DD/ID_discovery_cases-case4
De novo
Simplex
Segregated
HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
ceylan_19_DD/ID_discovery_cases-case5
Maternal
Simplex
Not segregated
PDZK1P1,RNU1-137P,RP11-94I2.4,RNVU1-7,RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10,PPIAL4A,RP3-328E19.5,RNVU1-13,RP3-328E19.4,NBPF14,RP11-289I10.2,PPIAL4D,RP11-289I10.3,RNVU1-14,RP11-89F3.2,NBPF20,PFN1P3,RP11-666A1.4,PFN1P6
ceylan_19_DD/ID_discovery_cases-case6
De novo
Simplex
Segregated
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,PPIAL4H,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,RNF115,HYDIN2,PDE4DIP
ceylan_19_DD/ID_discovery_cases-case8
qPCR
Possible paternal
Paternal
Possible multi-generational
Possibly segregated
HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10,PPIAL4A,RP3-328E19.5,RNVU1-13,RP3-328E19.4,NBPF14,RP11-289I10.2,PPIAL4D,RP11-289I10.3,RNVU1-14,RP11-89F3.2,NBPF20,PFN1P3,RP11-666A1.4,PFN1P6
chan_22_ASD_discovery_cases-case3-0440-000
Maternal
BCL9,FMO5,RNVU1-7,ACP6,GPR89B,NBPF12,PDIA3P1,NBPF11,GJA5,GJA8,LINC02806,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,PDZK1P1,PFN1P4,RPL7AP15,LINC00624,LINC02805,MIR5087,RNVU1-8,PRKAB2,LINC02804,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU1-129P,RNU1-151P,CHD1L
chaves_19_ASD/DD/ID_discovery_cases-case264
Unknown
NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
chaves_24_ASD/DD/ID_discovery_cases-case828
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
chaves_24_ASD/DD/ID_discovery_cases-case829
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
chaves_24_ASD/DD/ID_discovery_cases-case970
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
chehbani_22_ASD_discovery_cases-case1
Unknown
Simplex
BCL9,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,LINC00869,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,FAM72C,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,FAM91A2P,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,PDE4DIPP7,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNU1-68P,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-30,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
chehbani_22_ASD_discovery_cases-case33
Unknown
Simplex
BCL9,FCGR1A,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,LINC00869,POLR3GL,GNRHR2,LIX1L,H3C14,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BC20P,H2BC19P,H3C15,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,H2BC18,OR13Z2P,SSBL4P,FAM72C,H4C15,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,H2AC19,H3C13,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,FAM91A2P,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,PDE4DIPP7,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNU1-68P,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,PEX11B,H4C14,ITGA10,H2AC18,RNU1-153P,RNVU1-25,RNVU1-30,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
chehbani_22_ASD_discovery_cases-case58
Unknown
Simplex
BCL9,DRD5P2,FMO5,RNVU1-18,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,LINC00869,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,PDE4DIPP3,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,IGKV1OR1-1,NBPF15,ANKRD34A,LINC02806,H2BP2,LINC02591,NOTCH2NLA,LINC01138,NBPF9,NBPF17P,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,FAM72C,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,PFN1P12,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,FAM91A3P,PPIAL4E,PDZK1P1,PFN1P4,RPL22P5,PDE4DIPP6,NBPF10,FCGR1CP,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SRGAP2D,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,LINC02802,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,FAM91A2P,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-17,RNVU1-1,RNVU1-3,PDE4DIPP7,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU1-143P,RNU2-38P,RNVU1-23,RNU1-68P,RNVU1-22,RNU6-1071P,RNU1-114P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNA5SP529,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-30,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
costa_21_ASD_discovery_cases-caseP32
aCGH (Agilent 180K)
Maternal
BCL9,FMO5,RNVU1-7,GPR89B,ACP6,NBPF12,NBPF11,PDIA3P1,GJA8,GJA5,OR13Z1P,OR13Z3P,OR13Z2P,CCT8P1,NBPF13P,ABHD17AP1,PFN1P4,PDZK1P1,LINC00624,HYDIN2,PFN1P8,RNVU1-8,PRKAB2,RN7SL261P,RNA5SP57,RNU1-129P,CHD1L
digregorio_17_DD/ID_discovery_cases-DECIPHER_300650
qPCR
Paternal
NBPF19,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF11
digregorio_17_DD/ID_discovery_cases-DECIPHER_301263
qPCR
Unknown
NBPF20,NBPF19,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF11
fan_19_ASD_discovery_cases-caseASD227
Unknown
Unknown
Unknown
WI2-3658N16.1,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10
fan_19_ASD_discovery_cases-caseASD278
Unknown
Unknown
Unknown
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
feliciano_19_ASD_discovery_cases-caseSP0008074
Maternal
Simplex
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
null
feliciano_19_ASD_discovery_cases-caseSP0034531
De novo
Simplex
CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
null
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259657
Paternal
Simplex
Unknown
NBPF20,NBPF10,GPR89A,NBPF11,NBPF12,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,PPIAL4C,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F,NBPF14,NBPF9
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261202
Paternal
Paternal
Multi-generational
Possibly segregated
NBPF20,NBPF10,PDZK1,GPR89A,NBPF11,NBPF12,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,PPIAL4C,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F,NBPF14,NBPF9,NBPF15
gourari_18_ASD/EP_discovery_cases-case1
Unknown
Simplex
Unknown
NBPF19,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF11
granata_25_ASD_discovery_cases-caseA050
Paternal
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
granata_25_ASD_discovery_cases-caseA054
Paternal
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
granata_25_ASD_discovery_cases-caseA124
Paternal
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
gregory_09_ASD_discovery_cases-200411180
aCGH dye swap
Unknown
NA
NA
PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,RNF115,HYDIN2
guo_18_ASD/DD/ID_discovery_cases-caseBK-516-03
aCGH, Sanger sequencing
Maternal
Simplex
Unknown
RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,FMO5,LINC00624,BCL9,GPR89B,NBPF11,HYDIN2
han_22_ASD/DD/ID_discovery_cases-case16D0745
Maternal
BCL9,FMO5,RNVU1-7,GPR89B,ACP6,NBPF12,NBPF11,PDIA3P1,GJA8,GJA5,OR13Z1P,OR13Z3P,OR13Z2P,CCT8P1,NBPF13P,GPR89A,PDZK1P1,LINC00624,HYDIN2,PFN1P8,RNVU1-8,PRKAB2,RN7SL261P,RNA5SP57,CHD1L
hnoonual_17_ASD_discovery_cases-caseAR82-3
Maternal
NBPF19,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF11
husson_20_ASD_discovery_cases-case52
ddPCR, QMPSF, or aCGH
Unknown (not maternal)
Simplex
Unknown
NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000881
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAL4C,PPIAL4A,HIST2H2BF,FCGR1A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002484
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GPR89B,GPR89C,NBPF24,NBPF11,PPIAL4A,NBPF14,PPIAL4E,PPIAL4F,PPIAL4D,NBPF15,NBPF16,PPIAL4C,HIST2H2BF,FCGR1A,HIST2H3D,HIST2H4B,HIST2H4A,HIST2H3C,HIST2H3A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005372
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NBPF15,NBPF16,PPIAL4E,PPIAL4C,PPIAL4A,HIST2H2BF,FCGR1A
krumm_15_ASD_discovery_cases-case12265.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11,PPIAL4C,PPIAL4A,PPIAL4D,PPIAL4E,PPIAL4F,NBPF14,NBPF9,NBPF15
krumm_15_ASD_discovery_cases-case12420.p1
Illumina 1MDuo
De novo
Simplex
Segregated
NBPF20,NBPF10,PDZK1,GPR89A,NBPF11,NBPF12,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8
krumm_15_ASD_discovery_cases-case12803.p1
1M-Duov3
De novo
Simplex
Not segregated (CNV in unaffected sibling)
NBPF20,NBPF10,PDZK1,GPR89A,NBPF11,NBPF12,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
krumm_15_ASD_discovery_cases-case12907.p1
Illumina 1MDuo
De novo
Simplex
Segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
krumm_15_ASD_discovery_cases-case13507.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
NBPF20,NBPF10,PDZK1,GPR89A,NBPF11,NBPF12,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
krumm_15_ASD_discovery_cases-case13975.p1
Omni2.5-4v1
De novo
Simplex
Segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11,PPIAL4C,PPIAL4A,PPIAL4D,PPIAL4E,PPIAL4F,NBPF14,NBPF9,NBPF15
kucinska_24_ASD_discovery_cases-case8
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,NBPF15,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
kushima_22_BPD_discovery_cases-caseBD0501
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-27,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
kushima_22_BPD_discovery_cases-caseBD1260
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PDE4DIPP1,GPR89A,PDZK1P1,NBPF10,RPL7AP15,HYDIN2,LINC00624,PFN1P8,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_BPD_discovery_cases-caseBD1832
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PDE4DIPP1,GPR89A,PDZK1P1,NBPF10,RPL7AP15,HYDIN2,LINC00624,PFN1P8,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ0194
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ0288
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ0503
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ0690
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PDE4DIPP1,GPR89A,PDZK1P1,NBPF10,RPL7AP15,HYDIN2,LINC00624,PFN1P8,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ0952
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ1792
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,NBPF15,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
kushima_22_SCZ_discovery_cases-caseSCZ2104
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNA5SP57,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ2447
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PDE4DIPP1,GPR89A,PDZK1P1,NBPF10,RPL7AP15,HYDIN2,LINC00624,PFN1P8,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ2563
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-27,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
kushima_22_SCZ_discovery_cases-caseSCZ2714
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNA5SP57,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
kushima_22_SCZ_discovery_cases-caseSCZ3057
qRT-PCR
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,NBPF15,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
lai_24_DD/ID_discovery_cases-case28
PCR or Sanger
Maternal
BCL9,FMO5,ACP6,GPR89B,NBPF12,PDIA3P1,GJA5,GJA8,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,RPL7AP15,LINC00624,RNVU1-8,PRKAB2,RN7SL261P,RNU1-151P,CHD1L
leblond_19_ASD_discovery_cases-casePN400108
Unknown
Simplex
Not segregated
ACP6,BCL9,CHD1L,FMO5,GJA5,GJA8,GPR89B,NBPF10,NBPF12,NBPF19,NBPF20,PRKAB2
leite_22_DD/ID_discovery_cases-case038
Paternal
BCL9,FMO5,RNVU1-7,GPR89B,ACP6,NBPF12,NBPF11,PDIA3P1,GJA8,GJA5,OR13Z1P,OR13Z3P,OR13Z2P,CCT8P1,NBPF13P,ABHD17AP1,PFN1P4,PDZK1P1,LINC00624,HYDIN2,PFN1P8,RNVU1-8,PRKAB2,RN7SL261P,RNA5SP57,RNU1-129P,CHD1L
leppa_16_ASD_discovery_cases-AU1145301
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
leppa_16_ASD_discovery_cases-AU1163303
Paternal
Multiplex
Not segregated (CNV observed in 2/3 affected siblings and in one unaffected sibling)
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
leppa_16_ASD_discovery_cases-AU1163304
Paternal
Multiplex
Not segregated (CNV observed in 2/3 affected siblings and in one unaffected sibling)
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
leppa_16_ASD_discovery_cases-AU1301301
De novo
Multiplex
Not segregated (CNV not present in affected sibling)
FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
leppa_16_ASD_discovery_cases-AU1688302
Maternal
Multiplex
Not segregated (CNV not present in affected sibling AU1688301)
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, GPR89C, LINC00624, LOC728989, MIR5087, NBPF10, NBPF11, NBPF13P, NBPF8, PDIA3P1, PDZK1P1, PRKAB2
leppa_16_ASD_discovery_cases-AU3721301
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, GPR89C, LINC00624, LOC728989, MIR5087, NBPF10, NBPF11, NBPF13P, NBPF8, PDIA3P1, PDZK1P1, PRKAB2
leppa_16_ASD_discovery_cases-AU3721302
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, GPR89C, LINC00624, LOC728989, MIR5087, NBPF10, NBPF11, NBPF13P, NBPF8, PDIA3P1, PDZK1P1, PRKAB2
leppa_16_ASD_discovery_cases-AU4024303
De novo
Unknown
Possibly segregated
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
mahjani_21_ASD_discovery_cases-case171
Unknown
BCL9,FMO5,RNVU1-7,ACP6,GPR89B,PDIA3P1,NBPF11,GJA8,GJA5,LINC02806,LINC01138,OR13Z1P,OR13Z3P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PDE4DIPP1,ABHD17AP1,PFN1P4,PDZK1P1,RPL7AP15,LINC00624,LINC02805,RNVU1-8,PRKAB2,LINC01731,LINC02804,RN7SL261P,RNA5SP57,RNU1-129P,RNVU1-22,RNU1-151P,CHD1L
mahjani_21_ASD_discovery_cases-case172
Unknown
ACP6,BCL9,CHD1L,FMO5,GJA5,GJA8,GPR89B,LINC00624,LOC101927468,LOC728989,NBPF10,NBPF11,NBPF12,NBPF13P,NBPF20,NBPF25P,NBPF8,PDIA3P1,PDZK1P1,PRKAB2,RNVU1-8
mahjani_21_ASD_discovery_cases-case173
Unknown
BCL9,FMO5,RNVU1-7,ACP6,GPR89B,PDIA3P1,NBPF11,GJA8,GJA5,LINC02806,LINC01138,OR13Z1P,OR13Z3P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PDE4DIPP1,ABHD17AP1,PFN1P4,PDZK1P1,RPL7AP15,LINC00624,LINC02805,MIR5087,RNVU1-8,PRKAB2,LINC01731,LINC02804,RN7SL261P,RNVU1-21,RNA5SP57,RNU1-129P,RNVU1-22,RNU1-151P,CHD1L
mahjani_22_OCD/CTD_discovery_cases-case6
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,NBPF15,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,PFN1P6,CCT8P1,NBPF13P,LSP1P5,PPIAL4D,SRGAP2B,PPIAL4G,PPIAL4C,ABHD17AP1,PDE4DIPP1,PPIAL4F,FAM72D,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,RNVU1-2A,NBPF25P,LINC01719,LINC01632,RNVU1-14,RNVU1-15,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC01145,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNA5SP59,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNU1-153P,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNVU1-28,RNU1-154P,RNVU1-29,RNVU1-26,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
maini_18_ASD/DD/ID_discovery_cases-case173
Paternal
Simplex
Unknown
NBPF13P,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5
maini_18_ASD/DD/ID_discovery_cases-case74
Unknown
Not simplex
Unknown
NBPF13P,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5
maini_18_ASD/DD/ID_discovery_cases-case_unknown96
Paternal
Unknown
Unknown
NBPF13P,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10,PPIAL4A,RP3-328E19.5,RNVU1-13,RP3-328E19.4,NBPF14,RP11-289I10.2,PPIAL4D,RP11-289I10.3,RNVU1-14,RP11-89F3.2,NBPF20,PFN1P3,RP11-666A1.4,PFN1P6,RP11-666A1.5,RP11-666A1.3,RNVU1-15,RP11-666A1.7,NBPF16,RP11-763B22.4,RP11-763B22.3,RNVU1-16,RP11-763B22.10,PPIAL4F,RP11-763B22.6,RP11-763B22.7,NKAIN1P1,DRD5P2,RNA5SP59,RP11-14N7.2,AL732363.1,RP11-744H18.1,NBPF17P,PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P
maini_18_ASD/DD/ID_discovery_cases-case_unknown97
Paternal
Unknown
Unknown
RP6-206I17.1,PPIAL4G,AL109844.1,FAM72D,SRGAP2B,RP3-365I19.2,RP11-289H16.1,NBPF8,LINC00623,RNVU1-4,AL592284.1,PPIAL4B,RP6-137J22.3,RP11-640M9.1,RNVU1-5,RNU1-59P,RP11-640M9.2,WI2-1896O14.1,NBPF9,RP4-791M13.3,PDE4DIP,RP4-791M13.4,RP4-791M13.5,AL138796.1,RNU2-38P,AL590452.1,RP11-326G21.1,RN7SKP88,RP4-725K1.1,SEC22B,NUDT4P1,RNU6-1071P,RP11-458D21.6,RP11-458D21.5,NBPF10,RP11-458D21.1,RNVU1-6,HFE2,POLR3GL,RP11-315I20.1,GNRHR2,PEX11B,ITGA10,RP11-315I20.3,ANKRD35,PIAS3,NUDT17,POLR3C,CD160,PDZK1,GPR89A,WI2-925H4.1,GPR89C,PDZK1P1,RNU1-137P,RP11-94I2.4,RNVU1-7,RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10,PPIAL4A,RP3-328E19.5,RNVU1-13,RP3-328E19.4,NBPF14,RP11-289I10.2,PPIAL4D,RP11-289I10.3,RNVU1-14,RP11-89F3.2,NBPF20,PFN1P3,RP11-666A1.4,PFN1P6,RP11-666A1.5,RP11-666A1.3,RNVU1-15,RP11-666A1.7,NBPF16,RP11-763B22.4,RP11-763B22.3,RNVU1-16,RP11-763B22.10,PPIAL4F,RP11-763B22.6,RP11-763B22.7,NKAIN1P1,DRD5P2,RNA5SP59,RP11-14N7.2,AL732363.1,RP11-744H18.1,NBPF17P,PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,RP11-403I13.5,RP11-403I13.4,FAM91A3P,RP11-403I13.10,RP11-403I13.7,RNU1-143P,RP11-403I13.8,RP11-403I13.9,CR812485.1,RP5-998N21.3,RP5-998N21.4,HIST2H3PS2,RP5-998N21.7,RPL22P5,FAM72C,RNVU1-19,RP11-277L2.6,PPIAL4C,RP11-277L2.4,RP11-277L2.3,RP11-277L2.5,RP11-353N4.1,RNVU1-20,RP11-353N4.7,RP11-353N4.8,RP11-353N4.2,RP11-353N4.5,RP11-353N4.3,RNU1-68P,RP11-353N4.4,AL358813.2,AL358813.1
matthews_17_ASD_discovery_cases-case1
Paternal
Incomplete segregation
NBPF20,NBPF19,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF11
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530433
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,ACP6,GPR89B,NBPF12,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,LINC02806,LINC01138,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,PDZK1P1,PFN1P4,PDE4DIPP6,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B3P,PFN1P8,NOTCH2NLB,RNVU1-8,PRKAB2,RNVU1-1,RNVU1-3,SEC22B4P,MIR6077,LINC02804,PPIAL4H,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNVU1-25,RNU1-155P,RNVU1-27,RNVU1-29,CHD1L,NBPF14
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530443
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,ACP6,GPR89B,NBPF12,PDIA3P1,NBPF11,GJA5,GJA8,LINC02806,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,PDZK1P1,PFN1P4,PDE4DIPP6,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,RNVU1-8,PRKAB2,RNVU1-1,RNVU1-3,SEC22B4P,MIR6077,LINC02804,PPIAL4H,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU1-129P,RNU1-151P,RNA5SP536,RNVU1-25,RNU1-155P,RNVU1-29,CHD1L
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530444
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,ACP6,GPR89B,NBPF12,PDIA3P1,NBPF11,GJA5,GJA8,LINC02806,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,PDZK1P1,PFN1P4,PDE4DIPP6,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,NOTCH2NLB,RNVU1-8,PRKAB2,RNVU1-1,RNVU1-3,SEC22B4P,MIR6077,LINC02804,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU1-129P,RNU1-151P,RNA5SP536,RNVU1-25,RNU1-155P,RNVU1-27,CHD1L,NBPF14
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530445
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,ACP6,GPR89B,NBPF12,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,LINC02806,LINC01138,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,PDZK1P1,PFN1P4,PDE4DIPP6,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B3P,PFN1P8,NOTCH2NLB,RNVU1-8,PRKAB2,RNVU1-1,RNVU1-3,SEC22B4P,MIR6077,LINC02804,PPIAL4H,LINC01731,RN7SL261P,RNVU1-21,RN7SKP88,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,RNVU1-25,RNU1-155P,RNVU1-27,RNVU1-29,CHD1L,PDE4DIP,NBPF14
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530446
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,ACP6,GPR89B,NBPF12,PDIA3P1,NBPF11,GJA5,GJA8,LINC02806,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,PDZK1P1,PFN1P4,PDE4DIPP6,RPL7AP15,LINC00624,LINC02805,MIR5087,SEC22B3P,NOTCH2NLB,RNVU1-8,PRKAB2,RNVU1-1,RNVU1-3,MIR6077,LINC02804,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU1-129P,RNU6-1171P,RNU1-151P,RNU1-155P,RNVU1-27,CHD1L,PDE4DIP,NBPF14
miclea_22_DD/ID_discovery_cases-case59
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,HYDIN2,LINC00624,LINC02805,MIR5087,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-21,RNA5SP57,RNVU1-22,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNU1-155P,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
monteiro_19_ASD_discovery_cases_case2
De novo
NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
monteiro_19_ASD_discovery_cases_case3
Paternal
NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10,PPIAL4A,RP3-328E19.5,RNVU1-13,RP3-328E19.4,NBPF14,RP11-289I10.2,PPIAL4D,RP11-289I10.3,RNVU1-14,RP11-89F3.2,NBPF20,PFN1P3,RP11-666A1.4,PFN1P6,RP11-666A1.5,RP11-666A1.3,RNVU1-15,RP11-666A1.7,NBPF16,RP11-763B22.4,RP11-763B22.3,RNVU1-16,RP11-763B22.10,PPIAL4F,RP11-763B22.6,RP11-763B22.7,NKAIN1P1,DRD5P2,RNA5SP59,RP11-14N7.2,AL732363.1,RP11-744H18.1,NBPF17P,PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,RP11-403I13.5,RP11-403I13.4
mosrati_12_ASD/MR_discovery_cases-caseV5
Unknown
Multiplex
Unknown
PPIAL4C,PPIAL4A
mosrati_12_ASD/MR_discovery_cases-caseV6
Unknown
Multiplex
Unknown
PPIAL4A,NBPF14,PPIAL4D,PPIAL4F,PPIAL4E,NBPF15,NBPF16,PPIAL4C,HIST2H2BF,FCGR1A,HIST2H3D
munnich_19_ASD_discovery_cases-case21
FISH
De novo
HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10,PPIAL4A,RP3-328E19.5,RNVU1-13,RP3-328E19.4,NBPF14,RP11-289I10.2,PPIAL4D,RP11-289I10.3,RNVU1-14,RP11-89F3.2,NBPF20,PFN1P3,RP11-666A1.4,PFN1P6,RP11-666A1.5,RP11-666A1.3,RNVU1-15,RP11-666A1.7,NBPF16,RP11-763B22.4,RP11-763B22.3,RNVU1-16,RP11-763B22.10,PPIAL4F,RP11-763B22.6,RP11-763B22.7,NKAIN1P1,DRD5P2,RNA5SP59,RP11-14N7.2,AL732363.1,RP11-744H18.1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248281
Unknown
Unknown
Unknown
NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,PPIAL4B,PPIAL4A,NBPF14,PPIAL4F,PPIAL4D,NBPF15,NBPF16,PPIAL4E,PPIAL4C,HIST2H2BF,FCGR1A,HIST2H3D,HIST2H4B,HIST2H4A,HIST2H3C,HIST2H3A,HIST2H2AA3,HIST2H2AA4,HIST2H2BE,HIST2H2AC,HIST2H2AB,BOLA1,SV2A,SF3B4,MTMR11,OTUD7B,VPS45,PLEKHO1,ANP32E,CA14,APH1A,C1orf54,C1orf51,MRPS21,PRPF3,RPRD2,TARS2,ECM1,ADAMTSL4,MCL1,ENSA,GOLPH3L,HORMAD1,CTSS,CTSK,ARNT,SETDB1,CERS2,ANXA9,FAM63A,PRUNE,BNIPL,C1orf56,CDC42SE1,MLLT11,GABPB2,SEMA6C,TNFAIP8L2,TNFAIP8L2-SCNM1,LYSMD1,SCNM1,TMOD4,VPS72,PIP5K1A,PSMD4,ZNF687,PI4KB,RFX5,SELENBP1,PSMB4,POGZ,CGN,TUFT1,SNX27,CELF3,RIIAD1,MRPL9,OAZ3,TDRKH,LINGO4,RORC,C2CD4D,THEM5,THEM4,S100A10,S100A11,TCHHL1,TCHH,RPTN,HRNR,FLG,FLG2,CRNN,LCE5A,CRCT1,LCE3E,LCE3D,LCE3C,LCE3B,LCE3A,LCE2D,LCE2C,LCE2B,LCE2A,LCE4A,C1orf68,KPRP,LCE1F,LCE1E,LCE1D,LCE1C,LCE1B,LCE1A,LCE6A,SMCP,IVL,SPRR4,SPRR1A,SPRR3,SPRR1B,SPRR2D,SPRR2A,SPRR2B,SPRR2E,SPRR2F,SPRR2G,LELP1,PRR9,LOR,PGLYRP3,PGLYRP4,S100A9,S100A12,S100A8,S100A7A,S100A7L2,S100A7,S100A6,S100A5,S100A4,S100A3,S100A2,S100A16,S100A14,S100A13,S100A1,CHTOP,SNAPIN,ILF2,NPR1,INTS3,SLC27A3,GATAD2B,DENND4B,CRTC2,SLC39A1,CREB3L4,JTB,RAB13,RPS27,NUP210L,TPM3,C1orf189,C1orf43,UBAP2L,HAX1,AQP10,ATP8B2,IL6R,SHE,TDRD10,UBE2Q1,CHRNB2,ADAR,KCNN3,PMVK,PBXIP1,PYGO2,SHC1,CKS1B,FLAD1,LENEP,ZBTB7B,DCST2,DCST1,ADAM15,EFNA4
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248950
De novo
Unknown
Possibly segregated
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,PPIAL4B,PPIAL4A,NBPF14,PPIAL4F,PPIAL4D,NBPF15,NBPF16,PPIAL4E,PPIAL4C
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249001
Unknown
Unknown
Unknown
RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,FMO5,LINC00624,BCL9
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249919
De novo
Unknown
Possibly segregated
HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250214
Unknown
Unknown
Unknown
HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251690
Inherited from normal parent
Unknown
Unknown
NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,PPIAL4B,PPIAL4A,NBPF14,PPIAL4F,PPIAL4D,NBPF15,NBPF16
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252442
De novo
Unknown
Possibly segregated
HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252458
Unknown
Unknown
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24
nguyen_13_DD/ID/MCA/ASD_discovery_cases-252459
Inherited from affected parent
Unknown
Unknown
HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,PPIAL4B,PPIAL4A,NBPF14,PPIAL4F,PPIAL4D,NBPF15,NBPF16,PPIAL4E
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
De novo
Unknown
Possibly segregated
PPIAL4G,FAM72D,PPIAL4B,PPIAL4C,PPIAL4A,NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF14,PPIAL4F,PPIAL4D,NBPF15,NBPF16,PPIAL4E
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253792
Inherited from normal parent
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,PPIAL4B,PPIAL4A,NBPF14,PPIAL4F,PPIAL4D,NBPF15,NBPF16,PPIAL4E
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255780
De novo
Unknown
Possibly segregated
RNVU1-19,PPIAL4A,RNVU1-4,HIST2H3DP1,RPL22P6,LINC01691,RNA5SP533,NKAIN1P1,PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,RNVU1-15,PFN1P6,PPIAL4F,RNA5SP59,PPIAL4D,RNVU1-14,NUDT17,MIR6736,RBM8A,GNRHR2,ANKRD34A,TXNIP,RNVU1-6,LINC01719,RNU6-1071P,NUDT4P2,RNA5SP536,PFN1P8,RNU1-151P,CCT8P1,RPL7AP15,OR13Z1P,OR13Z2P,OR13Z3P,RN7SL261P,GJA8,RNU1-129P,RNVU1-7,PDE4DIPP1,PFN1P4,ABHD17AP1,RNA5SP57,RNU1-120P,MIR5087,RNU1-122P,RNVU1-1,MIR6077,RNU1-13P,RNVU1-3,PPIAL4G,RNU6-1171P,NUDT4B,RN7SKP88,RNU2-38P,RNU1-59P,PPIAL4C,FAM91A2P,RNU1-68P,FCGR1A,HIST2H3D,HIST2H4A,HIST2H3C,HIST2H2AA3,HIST2H2BD,HIST2H2AA4,HIST2H3A,HIST2H4B,HIST2H2BE,HIST2H2AC,HIST2H2AB,SF3B4,RN7SL480P,RNU2-17P,APH1A,CIART,MIR6878,ECM1,FALEC,MIR4257,RN7SL473P,RN7SL600P,MCL1,RNU6-1042P,UBE2D3P3,RNU6-1309P,RPS27AP6,CYCSP51,MINDY1,RNU6-884P,C1orf56,RPS29P29,LYSMD1,RN7SL444P,RFX5,PSMB4,RNY4P25,MIR554,RNU6-1062P,RNU6-662P,MRPL9,TDRKH-AS1,LINGO4,C2CD4D,THEM5,KRT8P28,NBPF18P,SPTLC1P4,TCHHL1,HMGN3P1,CRNN,LCE5A,CRCT1,LCE3E,LCE3D,LCE3C,LCE3B,LCE3A,LCEP4,LCE2D,LCE2C,LCE2B,LCE4A,C1orf68,LCEP2,LCEP1,KPRP,LCE1F,LCE1E,LCE1C,LCE1B,LCE1A,LCE6A,SPRR5,SPRR4,SPRR1A,SPRR3,SPRR1B,SPRR2D,SPRR2A,SPRR2B,SPRR2E,SPRR2F,SPRR2C,SPRR2G,LELP1,PRR9,LOR,RNU6-160P,S100A9,S100A12,LAPTM4BP1,S100A8,S100A15A,S100A7P1,S100A7L2,S100A7,RN7SL44P,S100A6,S100A5,S100A4,S100A3,S100A16,S100A13,S100A1,CHTOP,SNAPIN,MIR8083,RN7SL372P,GEMIN2P1,SLC27A3,CRTC2,MIR6737,CREB3L4,RAB13,RPS27,RNU6-179P,RPS7P2,MIR5698,RN7SL431P,MIR190B,C1orf43,SNORA58B,HAX1,RNU6-239P,RNU6-121P,AQP10,RNU7-57P,RPSAP17,PSMD8P1,UBE2Q1-AS1,CHRNB2,PBXIP1,SHC1,MIR4258,LENEP,DCST1-AS1,EFNA4,EFNA3,EFNA1,SLC50A1,HMGN2P18,TRIM46,MIR92B,MTX1,MTX1P1,SCAMP3,PKLR,RUSC1,MIR555,RNU6-106P,ASH1L-IT1,RNU6-1297P,POU5F1P4,ASH1L-AS1,MSTO1,SNORA80E,SCARNA4,MIR6738,SSR2,RAB25,BGLAP,PAQR6,GLMP,VHLL,TSACC,RHBG,MIR9-1,NAXE,HAPLN2,NES,CRABP2,ISG20L2,MRPL24,MIR765,RN7SL612P,ETV3L,CYCSP52,VDAC1P9,MRPS21P2,KIRREL1-IT1,ELL2P1,CD1D,CD1A,HMGN1P5,CD1C,CD1B,CD1E,OR10T2,OR10K2,OR10T1P,EI24P2,OR10R2,OR10R3P,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K4P,OR6K5P,OR6K6,OR2AQ1P,OR10AA1P,PYHIN5P,RAD1P2,RNA5SP60,MPTX1,OR10J2P,OR10J3,OR10J7P,OR10J8P,OR10J9P,OR10J1,OR10J5,OR10AE1P,APCS,OR10J6P,CRPP1,CRP,DUSP23,SLAMF8,MIR4259,SLAMF9,PIGM,IGSF8,CASQ1,PEA15,RPSAP18,NHLH1,RNU4-42P,SETP9,PPIAP37,ITLN1,ITLN2,USF1,KLHDC9,DEDD,USP21,B4GALT3,APOA2,TOMM40L,MIR5187,MPZ,RRM2P2,RNU6-481P,HSPA6,RPS23P10,HSPA7,RPS23P9,RPL31P11,RN7SL466P,DUSP12,MIR4654,RNA5SP61,MIR556,SPATA46,SLAMF6P1,UQCRBP2,RN7SL861P,RNA5SP62,RNA5SP63,NMNAT1P2,RNU5F-6P,HMGB3P6,RNU6-171P,RNU6-755P,MIR3658,RNA5SP64,MIR921,RPL4P2,CNN2P10,DUTP6,RNA5SP65,AKR1D1P1,MIR1255B2,GCSHP5,RPL34P1,RNU6-1310P,MIR557,QRSL1P1,XCL1,SUMO1P2,RPL29P7,RNA5SP66,METTL18,RN7SL333P,RN7SL269P,MRPS10P1,SIGLEC30P,MIR3119-2,MIR3119-1,ISCUP1,HAUS4P1,MIR1295A,MIR1295B,HMGB1P11,SRP14P4,GM2AP2,CYCSP53,PFN1P1,RPL4P3,DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,RN7SKP160,GAS5-AS1,RNA5SP67,RNA5SP68,RPL30P1,GPR52,BANF1P4,RABGAP1L-IT1,RNU6-307P,CACYBP,SDCCAG3P2,RPS29P4,LINC01657,RPS29P5,SCARNA3,RNU2-12P,MORF4L1P7,PTP4A1P7,MIR488,RASAL2-AS1,C1orf220,RNA5SP69,MIR4424,PTPN2P1,SETP10,EIF4A1P11,COX5BP8,MEF2AP1,RNU5F-2P,RN7SL230P,RPSAP16,VDAC1P4,MIR3121,OVAAL,KIAA1614-AS1,LINC01732,LINC01699,RNA5SP70,RN7SKP229,YPEL5P1,RNU6-152P,EIF1P3,TEDDM1,LINC00272,TEDDM2P,HMGN1P4,RNA5SP71,RNU6-41P,RN7SL654P,RNU7-13P,RNA5SP72,FTH1P25,RPL22P24,RPL5P5,GS1-279B7.1,RNU7-183P,MCRIP2P2,RNU6-1240P,PACERR,SLC4A1APP2,RN7SKP156,CLPTM1LP1,GAPDHP75,RNA5SP73,HNRNPA1P46,LINC01680,MIR4426,RGS2,RN7SKP126,ZNF101P2,SCARNA18B,MIR1278,EEF1A1P14,RNU6-983P,MIR4735,SEPT14P12,MRPS21P3,FAM204BP,C1orf53,PRR13P1,PEBP1P3,MIR181B1,MIR181A1,RPL23AP16,RNU6-778P,RNU6-716P,RNU6-609P,RNU6-570P,CCNQP1,RPL34P6,GPR25,ASCL5,PHLDA3,MIR5191,RNU6-501P,MIR1231,MIR6739,SHISA4,RPL10P4,MIR6740,CRIP1P3,ARL8A,PTPN7,UBE2T,CYCSP4,RNU6-89P,SLC25A39P1,PCAT6,MGAT4EP,HNRNPA1P59,MYOG,MYBPH,CHI3L1,NPM1P40,LINC01353,LINC01136,RNU6-487P,LARP7P1,SNORA77,KRT8P29,HSPE1P6,CBX1P3,LINC00303,ERLNC1,LINC00628,RNA5SP74,RNA5SP75,TMEM81,SNRPGP10,BLACAT1,MIR135B,RNU2-19P,RNU6-418P,RAB29,RPL22P4,MIR6769B,C1orf147,IL10,IL20,IL24,C4BPAP2,CDCA4P3,RNA5SP534,CDCA4P4,MIR29C,MIR29B2,LINC01735,RPS26P13,LINC01774,ATP5MC2P1,LINC01696,MIR205HG,MIR205,MIR4260,G0S2,ADORA2BP1,SERTAD4-AS1,ST13P19,RNU5A-8P,KCNH1-IT1,SNX25P1,ARPC3P2,SLC30A1,FDPSP8,RN7SL344P,RPL21P28,MIR3122,RN7SKP98,RPL23AP18,SNORA16B,FAM71A,FLVCR1-DT,RPL31P13,KRT18P12,ABHD17AP3,UBE2V1P13,GAPDHP24,VDAC1P10,MRPS18BP1,SPATA17-AS1,UBBP2,RNU1-141P,TGFB2-AS1,TGFB2-OT1,NXNP1,LINC01710,RIMKLBP2,RNA5SP76,MIR215,MIR194-1,RPS15AP12,MIR664A,SNORA36B,MORF4L1P1,AURKAP1,XRCC6P3,PRELID3BP1,RN7SL464P,RNU6ATAC35P,LINC01352,HLX,RNU6-403P,QRSL1P2,CICP13,RNU6-791P,NDUFB1P2,RNU4-57P,CCDC185,SNRPEP10,RNU6-1248P,PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,JMJD4,SNAP47-AS1,MIR5008,CICP26,SEPT14P17,MIR3620,C1orf35,MRPL55,FAM96AP2,GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,RNA5SP19,RNA5SP162,RNA5S1,RNA5S2,RNA5S3,RNA5S4,RNA5S5,RNA5S6,RNA5S7,RNA5S8,RNA5S9,RNA5S10,RNA5S11,RNA5S12,RNA5S13,RNA5S14,RNA5S15,RNA5S16,RNA5S17,RNA5SP18,DUSP5P1,FTH1P2,ISCA1P2,TMEM78,SPHAR,RNU6-180P,RN7SKP276,ACTA1,RNU4-21P,RNA5SP78,HMGN2P19,HMGB1P26,LINC01736,LINC01737,RNA5SP79,RN7SL837P,MIR1182,RNA5SP80,EXOC8,SNRPD2P2,RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,RAC1P7,MIR4671,COA6,LINC01354,IRF2BP2,LINC00184,RNY4P16,RN7SL668P,LINC01348,SNORA14B,MIR4753,RPL23AP23,RPS21P1,MTND6P14,MTND5P19,MTND4P10,MTND4LP21,MTND3P8,MTCO3P46,LDHAP2,LYST-AS1,MIR1537,RNU6-968P,RNU2-70P,ENO1P1,LGALS8-AS1,RPSAP21,RPL35P1,MT1HL1,RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,NBPF26,FCGR1B,FAM72B,EMBP1,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,LINC01632,LINC01145,PFN1P3,NBPF25P,PDZK1,CD160,POLR3C,PIAS3,ITGA10,PEX11B,LIX1L-AS1,LIX1L,POLR3GL,HJV,NBPF10,NOTCH2NLA,SEC22B4P,NBPF12,NBPF13P,PRKAB2,PDIA3P1,CHD1L,ACP6,GJA5,PDZK1P1,LINC01731,SEC22B3,NBPF9,SEC22B2,LINC00869,HIST2H2BF,HIST2H2BC,BOLA1,SV2A,MTMR11,PLEKHO1,ANP32E,CA14,C1orf54,MRPS21,TARS2,ADAMTSL4,ADAMTSL4-AS1,GOLPH3L,HORMAD1,CTSK,CTXND2,SETDB1,CERS2,PRUNE1,BNIPL,CDC42SE1,MLLT11,GABPB2,SEMA6C,TNFAIP8L2,SCNM1,TMOD4,VPS72,PIP5K1A,ZNF687,PI4KB,SELENBP1,POGZ,TUFT1,CELF3,RIIAD1,OAZ3,RORC,THEM4,S100A10,TCHH,RPTN,HRNR,FLG2,LCE1D,SMCP,IVL,LINC01527,PGLYRP3,PGLYRP4,S100A7A,S100A2,ILF2,NPR1,DENND4B,SLC39A1,JTB,TPM3,C1orf189,UBAP2L,ATP8B2,IL6R,SHE,UBE2Q1,ADAR,PYGO2,CKS1B,FLAD1,ZBTB7B,DCST2,DCST1,DPM3,KRTCAP2,THBS3,GBAP1,GBA,FAM189B,CLK2,HCN3,DAP3P1,YY1AP1,MSTO2P,SYT11,RIT1,KHDC4,RXFP4,UBQLN4,LAMTOR2,MEX3A,SEMA4A,SLC25A44,SMG5,TMEM79,CCT3,C1orf61,IQGAP3,TTC24,GPATCH4,BCAN,RRNAD1,SH2D2A,NTRK1,INSRR,PEAR1,LRRC71,KRT8P45,ETV3,FCRL4,FCRL2,CD5L,LINC01704,OR10R1P,OR6Y1,OR6P1,SPTA1,OR6K1P,OR6N1,OR6N2,MNDA,PYHIN1,IFI16,CADM3,CADM3-AS1,ACKR1,FCER1A,OR10J4,FCRL6,SNHG28,VSIG8,CFAP45,TAGLN2,IGSF9,LINC01133,KCNJ9,ATP1A2,DCAF8,PEX19,SUMO1P3,NCSTN,VANGL2,SLAMF6,SLAMF1,SLAMF7,CD244,F11R,TSTD1,ARHGAP30,PFDN2,NIT1,UFC1,PPOX,ADAMTS4,NDUFS2,NR1I3,PCP4L1,CFAP126,FCGR2A,FCGR3A,FCGR2C,FCGR3B,FCGR2B,FCRLA,FCRLB,C1orf226,UAP1,CCDC190,RGS4,LRRC52,MGST3,UCK2,FMO7P,LINC01675,FMO8P,FMO9P,FMO10P,FMO11P,TADA1,ILDR2,LINC01363,CREG1,MPC2,GPR161,TIPRL,SFT2D2,ANKRD36BP1,XCL2,DPT,LINC00626,ATP1B1,BLZF1,CCDC181,F5,SELL,METTL11B,LINC01681,LINC01142,GORAB,PRRX1,FMO3,FMO6P,FMO2,FMO1,FMO4,MYOCOS,MYOC,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,DARS2,GAS5,ZBTB37,SERPINC1,RC3H1-IT1,MRPS14,KIAA0040,TNR-IT1,LINC01645,LINC01741,SEC16B,CRYZL2P,CLEC20A,ANGPTL1,TOR3A,HNRNPA1P54,TDRD5,FAM163A,TOR1AIP2,TOR1AIP1,QSOX1,LHX4,KIAA1614,MR1,IER5,GLUL,RGS16,LINC01686,RGS8,NPL,SHCBP1L,KRT18P28,LAMC1-AS1,SMG7-AS1,NCF2,APOBEC4,TSEN15,EDEM3,LINC01633,TRMT1L,IVNS1ABP,PRG4,TPR,OCLM,PDC,PTGS2,RPS3AP9,LINC01351,RGS18,RGS21,RGS1,RGS13,UCHL5,GLRX2,B3GALT2,RPL23AP22,LINC01724,CFHR3,CFHR1,CFHR4,CFHR2,F13B,ZBTB41,EEF1A1P32,ATP6V1G3,LINC01222,LINC01221,KIF14,DDX59,INAVA,KIF21B,TMEM9,TNNT2,LAD1,TNNI1,CSRP1,RPS10P7,LMOD1,TIMM17A,RNPEP,ELF3-AS1,ELF3,GPR37L1,PTPRVP,RABIF,ADIPOR1,CYB5R1,TMEM183A,CHIT1,BTG2,FMOD,PRELP,OPTC,LAX1,SNRPE,ETNK2,REN,KISS1,PPP1R15B,MDM4,LRRN2,CNTN2,RBBP5,DSTYK,NUAK2,KLHDC8A,LEMD1-AS1,MFSD4A,ELK4,SLC45A3,NUCKS1,SLC41A1,PM20D1,RAB7B,CTSE,RHEX,AVPR1B,FAM72A,IKBKE,EIF2D,DYRK3,FCMR,PIGR,C1orf116,PFKFB2,YOD1,C4BPA,C4BPAP1,CR1L,CD46P1,CD46,MIR29B2CHG,CD34,LINC01717,LINC01698,LAMB3,TRAF3IP3,C1orf74,IRF6,IPO8P1,TRAF5,RD3,LINC01693,NEK2,TMEM206,NENF,LINC01740,BATF3,TATDN3,SPATA45,ANGEL2,LINC00538,CENPF,LINC00210,LINC01653,RRP15,C1orf143,LYPLAL1,ZC3H11B,EPRS,IARS2,HDAC1P2,C1orf115,MARC2,MARC1,C1orf140,DUSP10,LINC01655,LINC02474,LINC01705,HHIPL2,TAF1A-AS1,MIA3,BROX,FAM177B,TLR5,TP53BP2,GTF2IP20,DEGS1,CNIH4,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,COQ8A,TUBB8P9,ZNF847P,SNAP47,PRSS38,WNT3A,ARF1,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,RHOU,RAB4A,CCSAP,ABCB10,TAF5L,LINC01682,AGT,CAPN9,C1orf198,ARV1,FAM89A,C1orf131,GNPAT,EGLN1,TSNAX,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,TARBP1,LINC01132,TOMM20,GGPS1,B3GALNT2,MTCYBP14,GNG4,ERO1B,LGALS8,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,NBPF8,LINC00623,HIST2H2BA,SRGAP2C,SRGAP2-AS1,SRGAP2D,NBPF15,SRGAP2B,FAM72D,NBPF20,GPR89A,ANKRD35,FMO5,LINC00624,BCL9,GPR89B,NBPF11,LINC01138,NBPF14,NBPF19,VPS45,PRPF3,RPRD2,ENSA,CTSS,ARNT,PSMD4,CGN,SNX27,TDRKH,PUDPP2,FLG-AS1,FLG,LCE2A,S100A14,INTS3,GATAD2B,IL6R-AS1,TDRD10,KCNN3,PMVK,ADAM15,FDPS,RUSC1-AS1,ASH1L,DAP3,GON4L,ARHGEF2,LMNA,MEF2D,HDGF,PRCC,ARHGEF11,FCRL5,FCRL3,FCRL1,KIRREL1,OR10K1,AIM2,KCNJ10,ATP1A4,COPA,CD84,CD48,LY9,NECTIN4,FCER1G,SDHC,ATF6,OLFML2B,NOS1AP,SH2D1B,DDR2,HSD17B7,RGS5,NUF2,LMX1A,RXRG,TMCO1,FAM78B,POGK,MAEL,GPA33,DUSP27,POU2F1,CD247,RCSD1,ADCY10,DCAF6,TBX19,LINC00970,NME7,SLC19A2,SELP,C1orf112,SELE,KIFAP3,MROH9,PRRC2C,VAMP4,SLC9C2,CENPL,RC3H1,RABGAP1L,NDUFAF4P4,TNR,PAPPA2,ASTN1,CRYZL2P-SEC16B,TEX35,RALGPS2,FAM20B,ABL2,AXDND1,NPHS2,CEP350,XPR1,STX6,ZNF648,LINC01344,RNASEL,LINC01688,DHX9,LAMC1,LAMC2,NMNAT2,ARPC5,RGL1,COLGALT2,FAM129A,RNF2,SWT1,HMCN1,ODR4,PLA2G4A,ERVMER61-1,FDPSP1,LINC01035,BRINP3,LINC01720,CDC73,LINC01031,KCNT2,CFH,CFHR5,CRB1,DENND1B,LHX9,PTPRC,MIR181A1HG,NR5A2,ZNF281,CAMSAP2,MROH3P,RNU6-704P,CACNA1S,IGFN1,NAV1,IPO9-AS1,IPO9,LGR6,SYT2,KDM5B,KLHL12,PPFIA4,ADORA1,ATP2B4,ZC3H11A,ZBED6,SOX13,GOLT1A,PLEKHA6,NFASC,TMCC2,LEMD1,SLC26A9,SRGAP2,MAPKAPK2,IL19,FCAMR,C4BPB,CD55,CR2,PLXNA2,CAMK1G,UTP25,SYT14,SERTAD4,HHAT,RCOR3,LINC00467,INTS7,DTL,PPP2R5A,ATF3,NSL1,VASH2,RPS6KC1,PROX1,SMYD2,PTPN14,KCNK2,KCTD3,GPATCH2,SPATA17,TGFB2,SLC30A10,BPNT1,MARK1,HLX-AS1,LINC02257,TAF1A,AIDA,DISP1,CAPN8,CAPN2,FBXO28,NVL,CNIH3,DNAH14,ENAH,EPHX1,PARP1,PSEN2,CDC42BPA,LINC01641,ZNF678,WNT9A,OBSCN,HIST3H2BB,NUP133,GALNT2,PGBD5,TTC13,TRIM67,SPRTN,LINC00582,SIPA1L2,PCNX2,SLC35F3,RBM34,ARID4B,TBCE,LYST,NID1,GPR137B,EDARADD,HEATR1,ACTN2,MTR,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,RNF115,HYDIN2,PDE4DIP,OTUD7B,S100A11,NUP210L,MUC1,PMF1-BGLAP,PMF1,UHMK1,PBX1,ALDH9A1,SCYL3,DNM3,TNN,BRINP2,RASAL2,SOAT1,ACBD6,CACNA1E,RGSL1,SMG7,LINC01350,LINC01701,ASPM,NEK7,LINC00862,PPP1R12B,PIK3C2B,CDK18,RASSF5,CR1,KCNH1,LPGAT1,FLVCR1,PROX1-AS1,USH2A,ESRRG,LYPLAL1-DT,RAB3GAP2,SUSD4,WDR26,URB2,COG2,TSNAX-DISC1,DISC1,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,ANXA9,MPZL1,COP1,C1orf21,HSD11B1,SDCCAG8,PKP1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-259331
Unknown
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-261058
Unknown
Unknown
Unknown
PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
nguyen_13_DD/ID/MCA/ASD_discovery_cases-983
Inherited from normal parent
Unknown
Unknown
TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,GPR89C,NBPF11,NBPF24,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
pfundt_16_nonNDD_discovery_cases-case30
NBPF20 NBPF10 GPR89A NBPF25P PDZK1P2 NBPF11 NBPF12 LOC728989 NBPF13P PRKAB2 PDIA3P1 FMO5 CHD1L LINC00624 BCL9 ACP6 GJA5 GJA8 GPR89B PDZK1P2 NBPF11 NBPF8 LOC101927468 MIR5087 MIR6077 LOC100132057 PPIAL4C PPIAL4B RNVU1-19 PPIAL4F PPIAL4D PPIAL4E NBPF14 NBPF9 NBPF25P NBPF15
pfundt_16_nonNDD_discovery_cases-case94
NBPF20 NBPF10 GPR89A NBPF25P PDZK1P2 NBPF11 NBPF12 LOC728989 NBPF13P PRKAB2 PDIA3P1 FMO5 CHD1L LINC00624 BCL9 ACP6 GJA5 GJA8 GPR89B
pfundt_16_nonNDD_discovery_cases-case97
NBPF20 NBPF10 GPR89A NBPF25P PDZK1P2 NBPF11 NBPF12 LOC728989 NBPF13P PRKAB2 PDIA3P1 FMO5 CHD1L LINC00624 BCL9 ACP6 GJA5 GJA8 GPR89B
quintela_17_DD/ID_discovery_cases-caseID_402
Unknown
Unknown
NBPF20,NBPF19,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF11
quintela_17_DD/ID_discovery_cases-caseID_405
Unknown
Unknown
NBPF20,NBPF19,NBPF9,PDE4DIP,SEC22B,NOTCH2NL,NBPF10,HFE2,TXNIP,POLR3GL,ANKRD34A,LIX1L,RBM8A,PEX11B,ITGA10,ANKRD35,PIAS3,NUDT17,POLR3C,RNF115,CD160,PDZK1,GPR89A,NBPF11,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH12
Unknown
Unknown
NBPF13P,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,PDIA3P1,RP11-337C18.8,RPL7AP15,CHD1L,RP11-337C18.10,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RNVU1-7,PFN1P4,ABHD17AP1,RP4-565E6.1,XXyac-YX155B6.5,RNA5SP57,RP11-301M17.2,RP11-301M17.1
sansovic_17_DD/ID/ASD_discovery_cases-case78
Unknown
NBPF19,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF11
streata_22_ASD/DD/ID_discovery_cases-case188
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
streata_22_ASD/DD/ID_discovery_cases-case219
Unknown
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
streata_22_ASD/DD/ID_discovery_cases-case230
Unknown
BCL9,FMO5,FCGR1A,DRD5P2,RNVU1-7,RNF115,RNVU1-18,GPR89B,ACP6,LINC00869,POLR3GL,GNRHR2,LIX1L,NBPF12,ANKRD35,PFN1P3,NBPF11,NUDT17,PDIA3P1,GJA8,GJA5,NBPF15,ANKRD34A,LINC01138,NBPF9,OR13Z1P,OR13Z3P,OR13Z2P,FAM72C,CCT8P1,PFN1P6,NBPF13P,PPIAL4D,PPIAL4G,PFN1P12,SRGAP2B,NBPF8,GPR89A,PPIAL4F,PPIAL4A,ABHD17AP1,LINC00623,FAM72D,PPIAL4C,PFN1P4,PDZK1P1,PPIAL4E,PFN1P2,NBPF10,NBPF20,LINC00624,HYDIN2,NKAIN1P1,PFN1P8,RNVU1-8,PDZK1,PRKAB2,RNVU1-14,RNVU1-19,RNVU1-4,RNVU1-17,RNVU1-20,RNVU1-6,RNVU1-15,RN7SL261P,RNA5SP59,RNA5SP57,RN7SKP88,RNU1-68P,RNU6-1071P,RNU2-38P,RNU1-143P,RNU1-129P,RNU1-114P,ITGA10,PEX11B,RBM8A,PDE4DIP,SEC22B,CHD1L,PIAS3,CD160,TXNIP,POLR3C,NBPF14
verberne_22_ASD/DD/ID_discovery_cases-case310
De novo
BCL9,FMO5,DRD5P2,RNVU1-18,GPR89B,ACP6,LINC00869,NBPF12,PFN1P3,PDIA3P1,GJA8,GJA5,NBPF15,LINC01138,OR13Z1P,OR13Z3P,OR13Z2P,CCT8P1,PFN1P6,NBPF13P,PPIAL4D,PFN1P12,PPIAL4F,PPIAL4A,ABHD17AP1,PFN1P4,PPIAL4E,NBPF20,LINC00624,HYDIN2,NKAIN1P1,PFN1P8,RNVU1-8,PRKAB2,RNVU1-14,RNVU1-17,RNVU1-15,RN7SL261P,RNA5SP59,RNA5SP57,RNU1-143P,RNU1-129P,RNU1-114P,CHD1L,NBPF14
wu_24_ASD/ADHD/DD/ID_discovery_cases-case53
CMA
De novo
Simplex
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
wu_24_ASD/ADHD/DD/ID_discovery_cases-case70
CMA
Maternal
Simplex
BCL9,FMO5,RNVU1-7,RNVU1-2,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,NBPF11,PFN1P3,GJA5,GJA8,ANKRD34A,LINC02806,NOTCH2NLA,LINC01138,NBPF9,NUDT4B,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,PPIAL4G,ABHD17AP1,PDE4DIPP1,GPR89A,PDZK1P1,PFN1P4,PDE4DIPP6,NBPF10,RPL7AP15,NBPF20,HYDIN2,LINC00624,LINC02805,MIR5087,SEC22B2P,SEC22B3P,PFN1P8,NOTCH2NLB,NOTCH2NLC,NBPF19,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,RNVU1-1,RNVU1-3,SEC22B4P,MIR6736,MIR6077,LINC02804,PPIAL4H,LIX1L-AS1,LINC01731,RN7SL261P,RNVU1-24,RNVU1-21,RN7SKP88,RNA5SP57,RNU2-38P,RNVU1-22,RNU6-1071P,RNU1-129P,RNU6-1171P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-31,RNU1-155P,RNVU1-27,RNU1-154P,RNVU1-29,CHD1L,RBM8A,PDE4DIP,POLR3C,PIAS3,CD160,TXNIP,NBPF14
yuan_23_ASD_discovery_cases-qma01577s000
De novo
BCL9,FMO5,ACP6,PDIA3P1,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,RPL7AP15,LINC00624,RNVU1-8,PRKAB2,RNU1-151P,CHD1L
yuen_17_ASD_discovery_cases-case1-0382-003
Affymetrix CytoScan HD
Paternal
Multiplex
Not segregated
PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-case2-1306-003
Affymetrix 6.0
De novo
Multiplex
Possibly segregated
PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-case2-1306-004
Affymetrix 6.0
De novo
Multiplex
Not segregated
PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-case7-0028-003
Illumina OMNI 2.5M
Unknown
Simplex
Unknown
NBPF20,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-caseAU3721301
Not available
Maternal
Multiplex
Possibly segregated
NBPF20,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-caseAU3721302
Not available
Maternal
Multiplex
Possibly segregated
NBPF20,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-caseAU3807302
Not available
Putative De novo
Multiplex
Not segregated
NBPF20,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-caseAU4024303
Not available
Putative De novo
Simplex
Possibly segregated
NBPF20,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
yuen_17_ASD_discovery_cases-caseAU4361303
Not available
Unknown
Simplex
Unknown
NBPF20,NBPF10,NBPF12,PRKAB2,CHD1L,FMO5,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0382-003
RT-qPCR or WGS
Unknown
RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1287-003
RT-qPCR or WGS
Unknown
WI2-3658N16.1,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case214098
RT-qPCR or WGS
Unknown
GPR89C,PDZK1P1,RNU1-137P,RP11-94I2.4,RNVU1-7,RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11,RNVU1-12,RP11-495P10.1,RP11-495P10.10
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0029-003
RT-qPCR or WGS
Maternal
RP11-94I2.1,NBPF11,WI2-3658N16.1,PFN1P5,ABHD17AP2,RP4-565E6.1,RNA5SP57,HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P,RP6-74O6.6,RNVU1-10,RP11-495P10.2,RNU1-135P,RNVU1-11
null
zhang_23_ASD/DD/ID_discovery_cases-caseASD0343
qPCR
Maternal
BCL9,FMO5,RNVU1-7,RNF115,GPR89B,ACP6,POLR3GL,GNRHR2,LIX1L,NBPF12,ANKRD35,PFN1P3,NBPF11,NUDT17,PDIA3P1,GJA8,GJA5,NBPF15,ANKRD34A,LINC01138,NBPF9,OR13Z1P,OR13Z3P,OR13Z2P,CCT8P1,PFN1P6,NBPF13P,PPIAL4D,PPIAL4G,SRGAP2B,NBPF8,GPR89A,PPIAL4F,PPIAL4A,ABHD17AP1,LINC00623,FAM72D,PFN1P4,PDZK1P1,PPIAL4E,PFN1P2,NBPF10,NBPF20,LINC00624,HYDIN2,PFN1P8,RNVU1-8,PDZK1,PRKAB2,RNVU1-14,RNVU1-4,RNVU1-6,RNVU1-15,RN7SL261P,RNA5SP57,RN7SKP88,RNU6-1071P,RNU2-38P,RNU1-129P,ITGA10,PEX11B,RBM8A,PDE4DIP,SEC22B,CHD1L,PIAS3,CD160,TXNIP,POLR3C,NBPF14
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20029
Unknown
HYDIN2,NBPF12,PFN1P8,RP4-704D21.2,NBPF13P,RP11-325P15.1,RNVU1-8,RP11-325P15.2,PRKAB2,FMO5,RP11-337C18.9,PDIA3P1,RP11-337C18.8,RPL7AP15,RP11-337C18.10,CHD1L,RP11-337C18.4,OR13Z1P,Y_RNA,OR13Z2P,OR13Z3P,BCL9,ACP6,RN7SL261P,RP11-533N14.3,RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,RNU1-122P
krumm_15_ASD_discovery_controls-control13507.s1
1M-Duov3
Maternal
NBPF20,NBPF10,PDZK1,GPR89A,NBPF11,NBPF12,PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B
leblond_19_ASD_discovery_controls-siblingPN400170
Unknown
ACP6,BCL9,CHD1L,FMO5,GJA5,GJA8,GPR89B,NBPF10,NBPF11,NBPF12,NBPF19,NBPF20,PRKAB2
leppa_16_ASD_discovery_controls-AU1163302
Paternal
Unknown
PRKAB2,FMO5,CHD1L,BCL9,ACP6,GJA5,GJA8,GPR89B,NBPF8,NBPF11
No Animal Model Data Available