19p13.2-p13.12CNV Type: Deletion-Duplication
Largest CNV size: 3733872 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
CNVs within this region were identified in three cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Duplication
Behavioral characteristics associated with 19p13.2 microdeletions.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
3733872
1
2
3
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
2229217
1
0
1
nebel_15_DD/ID_discovery_cases
Cases from DECIPHER and other publications with overlapping events at the 19p13.12 locus
16
Cases presented with at least one of the following phenotypes: developmental delay, intellectual disability, microcephaly, or macrocephaly
N/A
50.00% Male
3090000
0
1
1
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
2211200
0
1
1
trimouille_17_ID_discovery_cases
Patients with 19p13 microduplications encompassing the NFIX gene
9
8/9 cases with intellectual disability; two of these cases also presented with autism spectrum disorder
Range, 10 mos.-16 yrs.
55.56% Male
3088447
0
4
4
welham_15_ASD_discovery_cases
Ten participants recruited through UNIQUE that were confirmed to have a 19p13.2 microdeletion
10
Diagnosis of ASD/autism based on meeting cut-off on Social Communication Questionnaire (SCQ); behavioral evaluation of cases made using the Challenging Behavior Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Mood Interest and Pleasure Questionnaire Short-Form (MIPQ-S), the Repetitive Behavior Questionnaire (RBQ), and a modified version of the Sleep Questionnaire (ISQm); self-help subscale of Wessex scale used as an approximate indicator of intellectual disability.
Range, 2-20 yrs.
40% Male
2070000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
nebel_15_DD/ID_discovery_cases
N/A
N/A
N/A
N/A
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
trimouille_17_ID_discovery_cases
France (n=6), UK (n=1), Italy (n=1), New Zealand (n=1)
aCGH, array SNP
60K array, 44K array
qPCR, FISH
welham_15_ASD_discovery_cases
5 from United Kingdom, 3 from United States, 1 from Australia, 1 from Canada
N/A
N/A
N/A
N/A
N/A
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002242
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10315258
14048994
3733737
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003863
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11227942
14532135
3304194
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004629
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12132052
14751798
2619747
GRCh38
Duplication
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case36
5 yrs.
F
Developmental delay
Developmental delay, hypotonia, suspected Haddad syndrome
12586538
14815757
2229220
GRCh38
Deletion
No
nebel_15_DD/ID_discovery_cases-case1
N/A
M
Intellectual disability and microcephaly
DECIPHER ID 257523. Microcephaly
Intellectual disability
12729186
15819190
3090005
GRCh38
Duplication
N/A
panigrahi_24_ASD/DD/ID_discovery_cases-case2
4 yrs.
F
Developmental delay
Global developmental delay, dysmorphism, behavioral abnormalities.
12367587
14578786
2211200
GRCh38
Duplication
No
trimouille_17_ID_discovery_cases-case1
10 yrs.
F
Intellectual disability
Case present in DECIPHER database (DECIPHER ID 2359). Birth/neonatal history: birth weight 3400 g. Developmental milestones: moderate developmental delay, especially delay in speech skills. Motor and musculoskeletal evaluation: significant joint stiffness, especially at ankles; hypermobility of elbows and hands; impaired fine motor skills and coordination; clinodactyly of the fifth fingers. Behavioral/psychiatric evaluation: described as sociable and friendly. Additional medical history: gastrointestinal motility disorders, daytime urinary incontinence; two haemangiomas localized on the center of forehead and base of right hallux. Dysmorphic features: full cheeks, arched eyebrows, hypertelorism, posteriorly rotated ears, short philtrum, large teeth with overbite, hairy forearms, broad halluces. Growth parameters: height -1 SD, weight 0 SD, head circumference -2 SD.
Intellectual disability
12132052
14751739
2619688
GRCh38
Duplication
No
trimouille_17_ID_discovery_cases-case2
9 yrs.
M
Intellectual disability and ASD
Case present in DECIPHER database (DECIPHER ID 257523). Birth/neonatal history: born at 35 weeks gestation with harmonious intrauterine growth retardation; birth weight 2090 g (17th %ile), length 41.5 cm (2nd %ile), head circumference 31 cm (15.5th %ile). Developmental milestones: severe psychomotor delay; walking at 5.5 years. Lanaguge and communication evaluation: absent speech (no language). Motor and musculoskeletal evaluation: bone age delay (estimated bone age of a few months at age of 5 years, no signs of malformation). Behavioral/psychiatric evaluation: severe behavioral disorders, including autism spectrum disorder and pica; insufficient food intake; many nocturnal awakenings. Additonal medical history: aortic hypoplasia associated with dilated cardiomyopathy. Dysmorphic features: full cheeks, arched eyebrows. Growth parameters: severe growth retardationl height -4 SD, weight -2.5 SD, head circumference -2.2 SD. Family history: one of two affected siblings from a family of four children.
Intellectual disability
12730559
15819010
3088452
GRCh38
Duplication
Yes
trimouille_17_ID_discovery_cases-case3
16 yrs.
M
Intellectual disability and ASD
Case is the brother of DECIPHER 257523. Birth/neonatal history: born at 37 weeks gestation; birth weight 3000 g (56.5th %ile), length 50 cm (81st %ile), head circumference 34.5 cm (68.5th %ile); severe neonatal feeding difficulties (gastrostomy and Nissen intervention required). Developmental milestones: severe psychomotor retardation; walking at 3 years of age. Language and communication evaluation: absent speech (no language). Motor and musculoskeletal evaluation: bilateral camptodactyly of the last four fingers. Behavioral/psychiatric evaluation: autism spectrum disorder; stereotypies. Additional medical history: feeding disorders. Dysmorphic features: unilateral cryptorchidism. Growth parameters: height -2 SD, weight -2 SD, head circumference -1.5 SD. Family history: one of two affected siblings from a family of four children.
Intellectual disability
12769368
15771965
3002598
GRCh38
Duplication
Yes
trimouille_17_ID_discovery_cases-case8
2 yrs. 9 mos.
M
Intellectual disability
Case present in DECIPHER database (DECIPHER ID 294330). Birth/neonatal history: mother smoked during pregnancy complicated by preeclampsia; born at 38 weeks gestation by vaginal delivery; birth weight 3690 g (88th %ile; +1.5 SD). Developmental milestones: delayed developmental milestones; walking at 24 months, with persistent unsteady gait thereafter; first words at 24 months, started to associate 2-3 words together at 32 months of age. Language and communication evaluation: 20-30 word vocabulary, but pronounciation was not always clear; receptive language level appeared to be better than expression abilities. Motor and musculoskeletal evaluation: unsteady gait; brachydactyly; small hands and feet with short fingers and toes. Behavioral/psychiatric evaluation: described to be very social. Additional medical history: strabismus. Dysmorphic features: upslanted palpebral fissures, epicanthic folds. Growth parameters: height -2 SD, weight 0 SD, head circumference -1.9 SD.
Intellectual disability; Bayley Assessment performed at age of 31 months found a cognitive function equivalent to 13 months, fine motor function equivalent to 21 months, and gross motor function equivalent to 14 months.
12233721
14532135
2298415
GRCh38
Duplication
No
welham_15_ASD_discovery_cases-case10
20 yrs.
F
ASD
Case met criteria for ASD using SCQ (total SCQ score of 19). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 15 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ). Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: ear problems, dental problems.
Self-help category (Wessex self-help subscale): partly able.
12898336
14969199
2070864
GRCh38
Deletion
N/A
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002242
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,TYK2,SLC44A2,DNM2,CARM1,SMARCA4,SPC24,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ZNF490,CACNA1A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003863
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004629
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A,ADGRE3
lee_17_ASD/DD/ID/MCA_discovery_cases-case36
Unknown
RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,ZNF490,CACNA1A,ADGRE3
nebel_15_DD/ID_discovery_cases-case1
CNV validation N/A
De novo
TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3,OR10H2
panigrahi_24_ASD/DD/ID_discovery_cases-case2
Unknown
CALR,CACNA1A,GET3,ADGRE5,DNASE2,DHPS,FARSA,SNORD41,WDR83OS,TNPO2,HOOK2,C19orf53,ASF1B,BEST2,CC2D1A,TRMT1,ZNF490,PODNL1,ZSWIM4,TRIR,BRME1,RTBDN,FBXW9,WDR83,YJU2B,MRI1,ZNF799,NACC1,MISP3,SAMD1,GADD45GIP1,DCAF15,RLN3,EEF1DP1,ZNF709,ZNF791,ZNF564,DAND5,DNAJB1,GCDH,MIR23AHG,SYCE2,RPL10P16,PALM3,NANOS3,MIR181C,MIR27A,MIR24-2,MIR23A,MIR181D,C19orf67,MIR639,RPS6P25,SNRPGP15,RPL12P42,MAN2B1,JUNB,LYL1,NFIX,NDUFB7,RPS29P23,PPIAP20,ADGRL1-AS1,MIR5695,MIR5684,PKN1,PGK1P2,RAD23A,PTGER1,RFX1,PRKACA,LINC01842,MIR6794,MIR1199,MIR6515,GNG14,LINC01841,FARSA-AS1,PRDX2,RN7SL231P,RN7SL619P,MTCO2P27,MTCO1P27,MTND2P40,MTATP6P27,THSD8,STX10,TECR,IER2,DDX39A,IL27RA,ZNF443,RNASEH2A,KLF1,ADGRL1,GIPC1,MAST1
trimouille_17_ID_discovery_cases-case1
Unknown
ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A,ADGRE3
trimouille_17_ID_discovery_cases-case2
qPCR or FISH (segregation analysis)
De novo
Multiplex
Possibly segregated
TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3,OR10H2
trimouille_17_ID_discovery_cases-case3
qPCR or FISH (segregation analysis)
De novo
Multiplex
Possibly segregated
MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3,OR10H2
trimouille_17_ID_discovery_cases-case8
Unknown
RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A
welham_15_ASD_discovery_cases-case10
CNV validation not reported
Unknown
Unknown
Unknown
MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,GCDH,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3
Controls
No Control Data Available
No Animal Model Data Available