2p13.3-p12CNV Type: Deletion
Largest CNV size: 5600000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A deletion within this region was identified in a 5-year-old male ASD case with dysmorphism (Roberts et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
7559934
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
5600000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
han_22_ASD/DD/ID_discovery_cases-case17D810
5 mos. 7 days
F
Developmental delay
68991199
76551132
7559934
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase1
5 yrs.
M
ASD
Dysmorphism
72473920
78109537
5635618
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
han_22_ASD/DD/ID_discovery_cases-case17D810
Unknown
ATP6V1B1,AUP1,ACTG2,ADD2,ANXA4,DGUOK,DCTN1,EGR4,EMX1,DOK1,HTRA2,OR7E62P,NFU1,ZNF638,TPRKB,NAT8B,CD207,PCYOX1,NAGK,C2orf42,MOB1A,POLE4,SLC4A5,CYP26B1,GMCL1,TTC31,OR7E91P,PRADC1,EVA1A,WDR54,INO80B,ANKRD53,ANTXR1,SFXN5,LBX2,CCDC142,MCEE,PCGF1,FAM136A,LOXL3,MRPL53,M1AP,TEX261,ASPRV1,FBXO41,LBX2-AS1,CLEC4F,TET3,ALMS1P1,DQX1,TLX2,GFPT1,HK2,MRPL36P1,FIGLA,NOTO,C2orf78,C2orf81,BOLA3,PAIP2B,PCBP1-AS1,RPSAP28,OR7E46P,PNPP1,RPL39P15,SNORA36C,BRD7P6,RPS15AP13,HMGA1P8,B3GALNT1P1,SUCLA2P2,MXD1,LINC01816,DCTN1-AS1,SUPT4H1P1,RPS28P5,RPS20P10,RPL36AP16,KRT18P26,MIR1285-2,GAPDHP57,USP21P2,TOR1BP1,TVP23BP2,ELOCP21,MOB4P1,MIR3126,TAF13P2,INO80B-WBP1,FNBP1P1,RNA5SP96,MIR5000,RNA5SP97,DGUOK-AS1,TGFA-IT1,HMGN2P21,ALMS1-IT1,ATP6V1B1-AS1,LINC01293,EVA1A-AS,PCBP1,RTKN,LINC01143,LINC01291,NECAP1P2,RN7SL470P,RN7SKP203,TACR1,SNRPG,TIA1,TGFA,SPR,GCFC2,RNU2-39P,RN7SL604P,RNU6-1216P,RNU6-105P,RNU6-542P,RNU6-111P,RN7SL160P,RPL23AP92,DUSP11,DYSF,MOGS,ALMS1,HK2-DT,MPHOSPH10,NAT8,MRPL19,MTHFD2,SNRNP27,SMYD5,CCT7,SEMA4F,STAMBP,AAK1,VAX2,WBP1,EXOC6B,RAB11FIP5
roberts_13_ASD/DD/ID_discovery_cases-ASDcase1
BACs aCGH or FISH
Unknown
Unknown
Unknown
RNU2-39P,SPR,PRADC1,EGR4,RNU6-111P,RPSAP28,ALMS1-IT1,NAT8,NAT8B,TPRKB,RNA5SP97,BOLA3-AS1,KRT18P26,RNU6-542P,TAF13P2,DCTN1-AS1,HMGA1P8,WDR54,INO80B,INO80B-WBP1,WBP1,MRPL53,TTC31,LBX2-AS1,PCGF1,DQX1,AUP1,DOK1,TVP23BP2,POLE4,MIR5000,GAPDHP57,SUPT4H1P1,SUCLA2P2,RN7SKP203,RN7SKP164,RNA5SP98,LINC01851,EMX1,NOTO,SMYD5,CCT7,DUSP11,STAMBP,ACTG2,DGUOK,DGUOK-AS1,FNBP1P1,BOLA3,MOB1A,MTHFD2,NECAP1P2,DCTN1,C2orf81,RTKN,MOGS,CCDC142,LBX2,TLX2,HTRA2,LOXL3,SEMA4F,LINC01291,LINC01293,MRPL19,GCFC2,SFXN5,RAB11FIP5,FBXO41,ALMS1P1,C2orf78,TET3,SLC4A5,M1AP,HK2,TACR1,LRRTM4,EXOC6B,ALMS1,EVA1A
Controls
No Control Data Available
No Animal Model Data Available