22q13.2-q13.33CNV Type: Deletion-Duplication
Largest CNV size: 8180000 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
CNVs within this region were found to be signficantly enriched in cases with developmental delay, intellectual disability, and other neurodevelopmental disorders (including ASD), compared to controls (Girirajan et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A de novo 7.9 Mb deletion in 22q13.2qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunologi...
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
Deletion
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Deletion
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
7554866
1
0
1
chen_10_DD/ID/EP_discovery_cases
Only child of healthy unrelated patients with no family history of autism, epilepsy and immunological or mental disorders
1
Intellectual disability (ID), autistic features, epilepsy, developmental delay (DD), atopic dermatitis, and abnormal immunological findings
5 yrs.
Male
7900000
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
8180000
59
3
62
guilherme_14_DD/EP/ASD_discovery_cases
Patients with deletions in ring chromosome 22
5
Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy
Range, 1-24 yrs.
40% Male
7800000
2
0
2
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
8681659
4
2
6
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
7000000
1
0
1
palumbo_17_DD/ID/ASD/EP_discovery_cases
Cases with 22q13.31 microdeletions (1 previously unreported case, 14 cases from the DECIPHER database)
15
13/15 cases with 22q13.31 microdeletions presented with developmental delay/intellectual disability (DD/ID); 3 cases presented with autism, 3 cases presented with seizures
N/A
60.0% Male
7590000
2
0
2
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
8400000
1
0
1
soorya_13_ASD/ID_discovery_cases
Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.
32
27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).
Range, 1.6-45.4 yrs. (mean 8.8, SD 9.2)
56.25% Male
8450477
6
0
6
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
8063500
1
0
1
xu_20_DD/ID_discovery_cases
Patients with clinical and genetic diagnosis of Phelan-McDermid syndrome from the China League of PMS Rare Disease recruited from 2018 to 2020 with 22q13.33 deletions
20
Cases diagnosed with Phelan-McDermid syndrome and presented with developmental delay/intellectual disability, behavioral abnormalities, and/or seizures
Range, 1.4-7.3 yrs.
60.00% Male
8651428
5
0
5
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
9079750
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
8180000
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chen_10_DD/ID/EP_discovery_cases
Taiwan
Karyotyping, aCGH
NimbleGen fine-tiling oligoarray
FISH
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
guilherme_14_DD/EP/ASD_discovery_cases
Brazil
Karyotyping, solid phase hybridization, array SNP
Illumina Quad610, Affymetrix Genome-Wide Nsp/Sty 6.2
FISH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
palumbo_17_DD/ID/ASD/EP_discovery_cases
N/A
Array SNP, N/A
Affymetrix CytoScan HD, N/A
HMM
Affymetrix ChAS v3.1
None
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
soorya_13_ASD/ID_discovery_cases
Caucasian
Karyotyping, FISH, aCGH, array SNP, solid phase hybridization
Affymetrix 6.0
MLPA, solid phase hybridization (Illumina Omni 2.5-8 v1)
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
CMA, karyotyping, and/or MLPA
xu_20_DD/ID_discovery_cases
China
aCGH, array SNP, MLPA, qPCR, WES
NA
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_19_ASD/DD/ID_discovery_cases-case44
N/A
F
MCA and dysmorphic features
DIM, motor difficulties, facial dysmorphism and congenital anomalies. Karyotype: 46, XX, del(22)(q13).
43204473
50759338
7554866
GRCh38
Deletion
No
chen_10_DD/ID/EP_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability, epilepsy, and autistic features
Birth/neonatal history: born at term with birth weight of 3497 grams; find to have postnatal hypotonia and gross motor delay. Language and communication evaluation: speech disorders and language impairment. Motor and musculoskeletal evaluation: unstable gait; 5th finger clinodactyly, large hands. Behavioral/psychiatric evaluation: autistic features, poor eye contact, stereotypic movements. Epilepsy/seizures: intermittent seizures occurred since 3 years of age. EEG: focal epileptogenicity with chaotic spikes and polyspikes arising from left frontal region. Brain imaging: brain ultrasound at age of 1 year showed lenticulostriatal vasculopathy; brain MRI revealed delayed and immature myelination in periventricular white matter of bilateral parietal lobes (normal corpus callosum). Hearing: right side auditory dysfunction. Other features: underwent herniorrhaphy for inguinal hernia at age of 2 years; atopic dermatitis noted at 4 years of age; immunological examinations revealed high IgE level of 448 IU/mL (normal, 10-180 IU/mL), low CD8 level of 24.5% (normal, 30-40%), low CD16+CD56 level of 2.6% (normal, 5.6-31%), and low active T-cell level of 6.4% (normal, 8-15%). Dysmorphic features: ptosis of right eye, large dysplastic ears, dolichocephaly, flat midface, bulbous nose, pointed chin, full cheeks, wide nasal bridge. Growth parameters: weight of 19.7 kg (50th %ile) and height of 111.5 cm (50th %ile) at age of 5 years. Family history: only child of healthy unrelated parents (mother and father were 23 and 32 years old, respectively, at time of birth); no family history of autism, epilepsy and immunological or mental disorders.
Intellectual disability
42949964
50803956
7853993
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case1879
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1880
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1881
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1882
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1883
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1884
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1885
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1886
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1887
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1888
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1889
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1890
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1891
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1892
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1893
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1894
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1895
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1896
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1897
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1898
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1899
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1900
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1901
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1902
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1903
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1904
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1905
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1906
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1907
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1908
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1909
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1910
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1911
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1912
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1913
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1914
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1915
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1916
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1917
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1918
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1919
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1920
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1921
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1922
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1923
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1924
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1925
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1926
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1927
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1928
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1929
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1930
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1931
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1932
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1933
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1934
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1935
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1936
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1937
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1938
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1939
NA
NA
Developmental delay
NA
NA
42604050
50724706
8120657
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case33128
NA
NA
Developmental delay
Autistic features, convulsive disorder, microcephaly
Mental retardation
42604050
50724706
8120657
GRCh38
Deletion
Yes
guilherme_14_DD/EP/ASD_discovery_cases-case2
24 yrs.
M
DD and epilepsy
Birth/neonatal history: unknown prenatal and neonatal history. Developmental milestones: neuropsychomotor and speech delay. Motor and musculoskeletal evaluation: hypotonia; 5th finger clinodactyly; skeletal X-rays showed chest asymmetry, mild dorsolombar scoliosis, C2-C3 vertebral fusion, and bilateral synostosis between semilunar and pyramidal bones. Epilepsy/seizures: yes. Brain imaging: mild diffuse thickening of the skull observed on brain CT. Dysmorphic features: cutis verticis gyrata in right parietal region, elongated and concave face, prominent nose, broad and pointed nasal bridge, small jaw, large and prominent dysmorphic ears, two cafe-au-lait spots. Growth parameters: height of 165.5 cm (10th %ile), weight of 45.5 kg (<5th %ile), and head circumference of 54 cm (2 SD) at age of 24 years. Family history: second child of healthy non-consanguineous parents.
44105777
51215613
7100000
Unknown
Deletion
No
guilherme_14_DD/EP/ASD_discovery_cases-case3
1 yr.
F
Developmental delay
Birth/neonatal history: born at term by C-section; birth weight of 3250 g (25th %ile), birth length of 47 cm (3rd %ile). Developmental milestones: mild motor developmental delay. Motor and musculoskeletal evaluation: hypotonia; promixal implantation of halluces. Dysmorphic features: irregular teeth, large nose, small mouth, small supernumerary nipple at left, hypertrophic clitoris (normal endocrine evaluation). Growth parmeters: weight of 9 kg (25th %ile), length of 73 cm (50th %ile), and head circumference of 47 cm (50th-98th %ile) at age of 1 year. Family history: second child of healthy non-consanguineous parents; younger brother with congenital malformations and normal karyotype.
43414331
51215613
7800000
Unknown
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002115
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42653747
50739836
8086090
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002227
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42826246
50739836
7913591
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002255
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
43807366
50739836
6932471
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002540
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42599757
50725241
8125485
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002698
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42433752
50738932
8305181
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004873
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42157188
50739836
8582649
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown128
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
42178470
49129406
6950937
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER250391
N/A
M
Developmental delay/intellectual disability
Hypotonia, abnormality of the face, macrocephaly, large hands, long foot, disproportionate tall stature, underdeveloped cerebellum
Developmental delay/intellectual disability
43746366
49056938
5310573
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER284009
N/A
F
Autism
Delayed speech and language development, autism, hypotonia, strabismus, unilateral renal agenesis, syndactyly
43204473
50759338
7554866
GRCh38
Deletion
No
pham_14_ASD/DD/EP/ID_discovery_cases-case41
10 yrs.
M
Developmental delay
Indication for study: moderate developmental delay. Level of mosaicism: 34% by CMA; 40% by FISH.
42374814
50739836
8365023
GRCh38
Mosaic deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH12
25.9
M
Intellectual disability
DSM-IV and confirmed diagnosis of not ASD. ADI-R scores: A (social), 27; B (communication), 14; C (RRBIS), 8. ADOS-G Module 1 scores: communication total, 0; social total, 4; communication + social, 4; RRBI, 1; severity score, 2. VABS-II scores: ABC, 20; communication, 21; socialization, 20; daily living, 21; motor, n/a. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, aggression, recurring URTIs, sleep disturbances, febrile seizures, lymphedema, asthma, vitiligo. Dysmorphic features: large fleshy hands, bulbous nose, long eyelashes, ear anomalies, macrocephaly, dolichocephaly, abnormal spine curvature, malocclusion/wide spaced teeth, malar hypoplasia, flat midface.
Profound ID; non-verbal IQ 7.71
42377726
50785780
8408055
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH13
14.5
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 22; B (communication), 13; C (RRBIS), 2. ADOS-G Module 1 scores: communication total, 6; social total, 11; communication + social, 17; RRBI, 2; severity score, 7. VABS-II scores: ABC, 27; communication, 30; socialization, 37; daily living, 25; motor, 51. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, GERD, recurring URTIs, febrile seizures, renal abnormalities, lymphedema, recurring cellulitis. Dysmorphic features: large fleshy hands, bulbous nose, ear anomalies, abnormal spine curvature, malocclusion/wide spaced teeth, short stature.
Profound ID; non-verbal IQ 3.45
43349123
50785780
7436658
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH16
7.4
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 25; B (communication), 14; C (RRBIS), 5. ADOS-G Module 1 scores: communication total, 4; social total, 12; communication + social, 16; RRBI, 5; severity score, 7. VABS-II scores: ABC, 52; communication, 48; socialization, 51; daily living, 57; motor, 43. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, aggression, GERD, sleep disturbances, renal abnormalities, asthma. Dysmorphic features: bulbous nose, long eyelashes, ear anomalies, hypoplastic/dysplastic nails, macrocephaly, dolichocephaly, hyperextensibility, pointed chin, 5th finger clinodactyly.
Profound ID; non-verbal IQ 15.84
42522705
50785780
8263076
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH23
11.4
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 30; B (communication), 14; C (RRBIS), 4. ADOS-G Module 1 scores: communication total, 6; social total, 14; communication + social, 20; RRBI, 6; severity score, 10. VABS-II scores: ABC, 32; communication, 31; socialization, 40; daily living, 35; motor, 56. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, GERD, recurring URTIs, constipation/diarrhea, seizures, febrile seizures, lymphedema, seasonal allergies, food allergies, hypothyroidism. Dysmorphic features: large fleshy hands, ear anomalies, hypoplastic/dysplastic nails, full lips, full cheeks, sparse hair/abnormal whorl, short stature, deep set eyes.
Profound ID; non-verbal IQ 11.7
43627293
50785780
7158488
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH24
4
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 22; B (communication), 12; C (RRBIS), 1. ADOS-G Module 1 scores: communication total, 6; social total, 8; communication + social, 14; RRBI, 3; severity score, 6. VABS-II scores: ABC, 58; communication, 52; socialization, 65; daily living, 60; motor, 64. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity, aggression, recurring URTIs, sleep disturbances, febrile seizures, renal abnormalities. Dysmorphic features: large fleshy hands, bulbous nose, ear anomalies, full lips, macrocephaly, periorbital fullness, long philtrum, sparse hair/abnormal whorl, ptosis.
Mild ID; non-verbal IQ 43.84
42822608
50785780
7963173
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH31
2.1
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), n/a; B (communication), n/a; C (RRBIS), n/a. ADOS-G Module 1 scores: communication total, 5; social total, 11; communication + social, 16; RRBI, 5; severity score, 9. VABS-II scores: ABC, 62; communication, 61; socialization, 76; daily living, 62; motor, 59. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, recurring URTIs, sleep disturbances, constipation/diarrhea, cardiac abnormality. Dysmorphic features: large fleshy hands, bulbous nose, long eyelashes, ear anomalies, hypoplastic/dysplastic nails, dolichocephaly, high arched palate, hyperextensibility, full cheeks, periorbital fullness, pointed chin, abnormal spine curvature. sparse hair/abnormal whorl.
Severe ID; non-verbal IQ 23.53
42426937
50785780
8358844
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case122
NA
F
Developmental delay and intellectual disability
Global developmental delay, facial dysmorphism.
Severe intellectual disability
42676337
50739836
8063500
GRCh38
Deletion
Yes
xu_20_DD/ID_discovery_cases-case1
2.3 yrs.
M
Developmental delay
Birth/neonatal history: premature birth (born 30.3 weeks gestation); birth weight 1.4 kg, birth length 40 cm. Developmental milestones: delayed ability to sit (sat independently at 11 months), walking independently at 13 months, raising head at 15 months, standing independently at 14 months; mild gross motor delay, mild fine motor delay, language delay (no words at 2.3 years of age). Motor and muscloskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: hair-pulling. Brain imaging: generous extracerebral spaces on brain MRI at 0.5 year. Additional medical history: genital anomalies. Dysmorphic features: hypertelorism. Growth parameters: weight 12 kg (20th %ile), height 90 cm (30th %ile).
Normal
42956378
50759338
7802961
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case16
4.8 yrs.
F
Developmental delay
Birth/neonatal history: premature birth (born 27 weeks gestation); birth weight 2.98 kg, birth length 50 cm. Developmental milestones: raised head at 5 months, delayed ability to sit (12 months), stood independently at 18 months, delayed ability to walk (33 months); gross motor delay, fine motor delay, mild language delay (single words or phrases). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Brain imaging: enlarged ventricles on brain MRI at 0.5 years. Additional medical history: decreased perspiration/heat intolerance, increased pain threshold, recurrent upper respiratory tract infections, renal abnormalities, congenital heart defect, eczema. Growth parameters: weight 20 kg (97th %ile), OFC 53 cm (97th %ile), height 110 cm (97th %ile).
43278426
50701350
7422925
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case2
1.9 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: born at 37.7 weeks gestation; birth weight 3.4 kg, birth length 50 cm. Developmental milestones: sat independently at 7 months, raised head at 2 months, delayed ability to stand (not yet achieved), delayed ability to walk (not yet achieved); mild gross motor delay, mild fine motor delay, mild langauge delay; developmental regression at 1 year of age (loss of cognition). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: biting (self or others), hair-pulling, non-stop crying, repetitive behaviors, impulsivity, aggressive behavior. EEG: abnormal. Brain imaging: delayed myelination on brain MRI at 0.5 years. Additional medical history: overheating or turning red easily, recurrent upper respiratory tract infections. Dysmorphic features: descending palpebral fissure, strabismus, bulbous nose, frontal bossing. Growth parameters: increased body weight (16 kg; >97th %ile), tall stature (94 cm; 97th %ile), OFC 49 cm (73rd %ile).
Mild intellectual disability
43032835
50759338
7726504
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case25
1.8 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: premature birth (born 36.7 weeks gestation); birth weight 2.73 kg, birth length 40 cm. Developmental milestones: raised head at 8 months, delayed ability to sit (21 months), delayed ability to stand (not yet achieved); extremely severe gross motor delay, severe fine motor delay, severe language delay (no words). Motor and musculoskeletal evaluation: hypotonia. Brain imaging: thinning of the corpus callosum on brain MRI at 1.6 years, arachnoid cyst. Additional medical history: sensitivity to touch, increased pain tolerance, chewing difficulties, constipation, congenital heart defect, allergies. Growth parameters: weight 10.3 kg (12th %ile), OFC 48 cm (79th %ile), height 88 cm (80th %ile).
Extremely severe intellectual disability
42126564
50777991
8651428
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case5
5.8 yrs.
M
Developmental delay and seizures
Birth/neonatal history: born 41 weeks gestation; birth weight 4 kg, birth length 52 cm. Developmental milestones: delayed ability to sit (sat independently at 11 months), delayed ability to walk (walked independently at 34 months), delayed ability to stand (stood independently at 30 months), gross motor delay, fine motor delay, language delay (no words at 5.8 years). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Epilepsy/seizures: seizures. EEG: abnormal. Brain imaging: agenesis of the corpus callosum on brain MRI at 2.3 years, arachnoid cyst. Additional medical history: increased pain tolerance, constipation, recurrent upper respiratory tract infections, congenital heart defect, hearing loss. Dysmorphic features: downturned mouth. Growth parameters: weight 24 kg (90th %ile), OFC 58 cm (90th %ile), height 120 cm (90th %ile).
43233476
50759338
7525863
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case2543
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
41722084
50759410
9037327
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case44
Unknown
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,RNU6-409P,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3,PARVB
chen_10_DD/ID/EP_discovery_cases-case1
FISH
De novo, paternal chromosome
Simplex
Segregated
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1879
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1880
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1881
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1882
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1883
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1884
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1885
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1886
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1887
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1888
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1889
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1890
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1891
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1892
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1893
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1894
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1895
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1896
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1897
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1898
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1899
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1900
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1901
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1902
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1903
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1904
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1905
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1906
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1907
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1908
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1909
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1910
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1911
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1912
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1913
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1914
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1915
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1916
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1917
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1918
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1919
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1920
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1921
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1922
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1923
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1924
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1925
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1926
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1927
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1928
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1929
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1930
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1931
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1932
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1933
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1934
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1935
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1936
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1937
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1938
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case1939
NA
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
girirajan_12_ASD/DD/ID_discovery_cases-case33128
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
guilherme_14_DD/EP/ASD_discovery_cases-case2
De novo
Simplex
Segregated
EFCAB6,SULT4A1,PNPLA5,PNPLA3,SAMM50,PARVB,PARVG,KIAA1644,LDOC1L,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,NUP50,KIAA0930,UPK3A,FAM118A,SMC1B,RIBC2,FBLN1,ATXN10,WNT7B,C22orf26,PPARA,CDPF1,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,C22orf34,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
guilherme_14_DD/EP/ASD_discovery_cases-case3
FISH
De novo
Likely simplex (younger brother with congenital anomalies but normal karyotype)
Possibly segregated
TTLL1,BIK,MCAT,TSPO,TTLL12,SCUBE1,MPPED1,EFCAB6,SULT4A1,PNPLA5,PNPLA3,SAMM50,PARVB,PARVG,KIAA1644,LDOC1L,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,NUP50,KIAA0930,UPK3A,FAM118A,SMC1B,RIBC2,FBLN1,ATXN10,WNT7B,C22orf26,PPARA,CDPF1,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,C22orf34,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002115
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002227
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002255
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002540
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002698
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004873
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,OGFRP1,LINC01315,NFAM1,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TCF20,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
maini_18_ASD/DD/ID_discovery_cases-case_unknown128
De novo
Unknown
Unknown
SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,OGFRP1,LINC01315,NFAM1,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,TCF20,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,PACSIN2,PARVB
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER250391
CNV validation not reported
De novo
Unknown
Unknown
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,PARVB
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER284009
CNV validation not reported
Unknown
Unknown
Unknown
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
pham_14_ASD/DD/EP/ID_discovery_cases-case41
FISH and/or chromosome analysis
Unknown
Unknown
Unknown
SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NFAM1,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
soorya_13_ASD/ID_discovery_cases-SH12
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NFAM1,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
soorya_13_ASD/ID_discovery_cases-SH13
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
soorya_13_ASD/ID_discovery_cases-SH16
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
Unknown (not paternal)
RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
soorya_13_ASD/ID_discovery_cases-SH23
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
soorya_13_ASD/ID_discovery_cases-SH24
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
soorya_13_ASD/ID_discovery_cases-SH31
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
Unknown (not maternal)
SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NFAM1,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB
streata_22_ASD/DD/ID_discovery_cases-case122
CMA, karyotyping, and/or MLPA
De novo
ACR,MPPED1,ARSA,BIK,TSPO,CHKB,CYB5R3,FBLN1,CPT1B,TYMP,SMC1B,ARFGAP3,MCAT,GTSE1,NCAPH2,PARVB,TRMU,PRR5,MIOX,TTC38,A4GALT,MOV10L1,PRR34,FAM118A,PANX2,EFCAB6,CRELD2,CERK,PARVG,ALG12,ADM2,TRABD,SELENOO,SCUBE1,PNPLA3,HDAC10,RTL6,SHANK3,PHF21B,TUBGCP6,SHISAL1,LMF2,KLHDC7B,PNPLA5,PRR34-AS1,CDPF1,GTSE1-DT,TTLL8,MRPS18CP6,CHKB-CPT1B,RPL5P34,MIR3667HG,LINC00207,LINC00898,MIRLET7BHG,IL17REL,ODF3B,DENND6B,MIRLET7A3,PIM3,LINC00229,MIRLET7B,PRR5-ARHGAP8,TBC1D22A-AS1,KRT18P23,RPL35P8,SYCE3,RPL35AP36,RPL5P35,ANP32BP2,LINC01310,CHKB-DT,LINC00899,MIR1249,MIR3667,MIR3619,MIR3201,MIR4762,LINC01589,MIR4535,MIR4763,NUP50-DT,TTLL1-AS1,EFCAB6-AS1,GOLGA2P4,LINC01656,LINC01644,SCUBE1-AS1,MAPK11,PPARA,SBF1,MAPK12,MIR6821,KLHDC7B-DT,LINC01639,SCUBE1-AS2,RN7SKP252,WNT7B,UPK3A,RNU6-1161P,RNU6-409P,FAM136EP,EFCAB6-DT,TBC1D22A-DT,ZBED4,SCO2,CELSR1,PPP6R2,NUP50,PACSIN2,PKDREJ,GRAMD4,TTLL12,ATXN10,KIAA0930,ARHGAP8,BRD1,TTLL1,HMGN2P9,SAMM50,SULT4A1,TBC1D22A,TAFA5,RIBC2,PLXNB2,MLC1,MAPK8IP2
xu_20_DD/ID_discovery_cases-case1
Unknown
SCUBE1-AS2,SCUBE1-AS1,HMGN2P9,PNPLA5,RPL35AP36,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,TTLL1-AS1,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3,PACSIN2,PARVB
xu_20_DD/ID_discovery_cases-case16
Unknown
SCUBE1-AS1,HMGN2P9,PNPLA5,RPL35AP36,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3,PARVB
xu_20_DD/ID_discovery_cases-case2
De novo
SCUBE1-AS2,SCUBE1-AS1,HMGN2P9,PNPLA5,RPL35AP36,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,TTLL1-AS1,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3,PARVB
xu_20_DD/ID_discovery_cases-case25
Unknown
CYP2D6,CYP2D7,CYP2D8P,SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,SCUBE1-AS2,SCUBE1-AS1,HMGN2P9,PNPLA5,RPL35AP36,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,NDUFA6-DT,OGFRP1,LINC01315,NFAM1,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1-AS1,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,TCF20,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3,PACSIN2,PARVB
xu_20_DD/ID_discovery_cases-case5
Unknown
SCUBE1-AS1,HMGN2P9,PNPLA5,RPL35AP36,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3,PARVB
yingjun_17_ASD_discovery_cases-case2543
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNU6ATAC22P,SREBF2-AS1,MIR33A,MIR378I,LINC00634,SLC25A5P1,NAGA,PHETA2,SNORD13P1,SMDT1,OLA1P1,CYP2D6,CYP2D7,CYP2D8P,SERHL,RN7SKP80,RNU6-513P,RNU12,ATP5MGL,RPL5P34,GOLGA2P4,HMGN2P9,PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MEI1,SREBF2,SHISA8,TNFRSF13C,SEPT3,WBP2NL,NDUFA6,NDUFA6-DT,OGFRP1,LINC01315,NFAM1,RRP7A,SERHL2,RRP7BP,CYB5R3,A4GALT,ARFGAP3,TTLL1,MCAT,TSPO,TTLL12,LINC01639,MPPED1,EFCAB6-AS1,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,CCDC134,TCF20,POLDIP3,BIK,SCUBE1,EFCAB6,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PACSIN2,PARVB,CENPM
Controls
No Control Data Available
No Animal Model Data Available