6p25.3-p25.1CNV Type: Deletion
Largest CNV size: 6610000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Deletions in this region were identified in two patients, one male and one female, with developmental delay and a diagnosis of Axenfeld-Rieger anomaly. One of these patients displayed autistic behaviors.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal de...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
5900000
23
12
35
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
6119836
6
1
7
tonoki_11_DD_discovery_cases
Two Japanese cases presenting with developmental delay and Axenfeld-Rieger anomalies; both cases with 6p25 deletions
2
Axenfeld-Rieger anomalies & developmental delay. One case with autistic features (autistic behavior).
Range, 8 mos.-5 yrs.
50% Male
6610000
2
0
2
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
6540999
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
5900000
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
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
tonoki_11_DD_discovery_cases
Japanese
Array SNP, FISH
Affymetrix GeneChip 250K Nsp array
CNAG 3.0
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
girirajan_12_ASD/DD/ID_discovery_cases-case2013
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2014
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2015
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2016
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2017
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2018
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2019
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2020
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2021
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2022
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2023
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2024
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2025
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2026
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2027
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2028
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2029
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2030
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2031
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2032
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2033
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2034
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2035
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2036
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2037
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2038
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2039
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2040
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2041
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2042
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2043
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2044
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2045
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case2046
NA
NA
Developmental delay
NA
NA
155000
6054768
5899769
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case43001
NA
NA
ADD
Attention deficit disorder of childhood with hyperactivity, failure to thrive, microcephaly.
NA
155000
6054768
5899769
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
163083
6062800
5899718
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001180
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
163083
5875402
5712320
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
144957
5239181
5094225
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001808
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
107682
4978781
4871100
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001970
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
164633
6284237
6119605
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004537
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
162883
5979198
5816316
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005162
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
164633
5823601
5658969
GRCh38
Deletion
Yes
tonoki_11_DD_discovery_cases-patient1
5 yrs.
F
Developmental delay + autistic features
Diagnosis of Axenfeld-Rieger anomaly. Birth/neonatal history: born after 42 weeks of gestation with birth weight of 2258 g (<5th %ile), length of 47.4 cm (32nd %ile), and head circumference of 33.0 cm (47th %ile); exhibited a number of congenital anomalies. Developmental milestones: delayed developmental milestones (head control at 4 months, sitting without support at 11 months, walking at 22 months, lack of meaningful words at 24 months). Behavioral/psychiatric evaluation: autistic features (autistic behaviors) displayed at 5 years of age. Vision: neonatal buphthalmos, posterior embryotoxon, strabismus; normal intraocula pressure and pupil shape. Hearing: bilateral sensorineural deafness. Cardiac defects: atrial septal defect. Brain imaging: agenesis of corpus callosum. Dysmorphic features: apparent hypertelorism, downslanting palpebral fissures, high palate, strabismus, fusion of labia minor, redundant peri-umbilical skin. Growth parameters (at 19 months): height, 80.2 cm (49th %ile); weight, 9.2 kg (21st %ile). Karyotype: 46, XX, del(6)(p25.1); parental karyotypes normal. Family history: phenotypically normal, unrelated parents.
Developmental delay
NA (approx. 74360)
NA (approx. 4978093)
NA (5.0-5.7 Mb)
NCBI35
Deletion
No
tonoki_11_DD_discovery_cases-patient3
8 mos.
M
Developmental delay
Diagnosis of Axenfeld-Rieger anomaly. Birth/neonatal history: born after 40 weeks of gestation with birth weight of3230 g (56th %ile), length of 49.1 cm (39th %ile), and head circumference of 32.5 cm (28th %ile); atrial septal defect and pulmonary stenosis detected in neonatal period, but no treatment was needed; buphthalmose noted at 4 months of age. Developmental milestones: mildly delayed development. Motor and musculoskeletal evaluation: hypotonia. Vision: ophthalmological examination revealed increased intraocular pressure & posterior embryotoxon; no srugery necessary to treat intraocular pressure. Brain MRI: normal. Hearing: normal brainstem auditory evoked potential. Cardiac defects: atrial septal defect, pulmonary stenosis. Dysmorphic features: broad forehead, apparent hypertelorism, downslanting palpebral fissures, low-set and malformed ears, small anteverted nose. Karyotype: 46,XY,der(6)t(X;6)(p22.3;p25)dn or 46,XY,der(6)t(Y;6)(p22.3;p25)dn; parental karyotypes normal. Family history: phenotypically normal, unrelated parents.
Mild developmental delay
174769
6790632
6615864
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0324-003
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A. Additional genetic information: 46 XY.ish der (9)t(6;9)(p24;p23)(6ptell48+,9ptel-)mat.
202001
6742767
6540767
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_12_ASD/DD/ID_discovery_cases-case2013
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2014
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2015
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2016
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2017
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2018
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2019
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2020
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2021
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2022
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2023
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2024
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2025
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2026
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2027
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2028
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2029
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2030
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2031
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2032
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2033
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2034
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2035
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2036
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2037
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2038
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2039
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2040
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2041
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2042
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2043
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2044
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2045
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case2046
NA
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
girirajan_12_ASD/DD/ID_discovery_cases-case43001
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001180
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CICP18,HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,GMDS,BPHL,LYRM4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001808
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CICP18,HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,GMDS,BPHL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001970
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4,F13A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004537
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005162
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,GMDS,BPHL,LYRM4
tonoki_11_DD_discovery_cases-patient1
Unknown (possibly de novo based on normal parental karyotypes)
Unknown
Possibly segregated
Est. gene content: DUSP22,IRF4,EXOC2,HUS1B,FOXQ1,FOXF2,FOXC1,GMDS,C6orf195,MYLK4,WRNIP1,SERPINB1,SERPINB9,SERPINB6,NQO2,RIPK1,BPHL,TUBB2A,TUBB2B,PSMG4,SLC22A23,PXDC1,FAM50B,PRPF4B,FAM217A,C6orf201,ECI2,CDYL,RPP40
tonoki_11_DD_discovery_cases-patient3
Unknown (possibly de novo based on normal parental karyotypes)
Unknown
Possibly segregated
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,SNAPC5P1,CNN3P1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,LY86,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,LY86-AS1,GMDS,BPHL,LYRM4,F13A1
yuen_17_ASD_discovery_cases-case1-0324-003
Illumina OMNI 2.5M
Possibly maternal [unbalanced translocation 46 XY.ish der (9)t(6;9)(p24;p23)(6ptell48+,9ptel-)mat]
Simplex
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,SNAPC5P1,CNN3P1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,LY86,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,LY86-AS1,GMDS,BPHL,LYRM4,F13A1
Controls
No Control Data Available
No Animal Model Data Available