2q14.3-q24.3CNV Type: Duplication
Largest CNV size: 47217000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Duplication containing the MBD5 gene identified in a patient with developmental delay and ASD/autistic features
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
mullegama_13_ASD/DD/ID_discovery_cases
Individuals with 2q23.1/MBD5 duplications; two cases previously reported in Chung et al. Eur J Hum Genet 2012 report. Only individuals with defined duplication start and end points (from Supplemental Table 1)were annotated.
30
Most prevalent phenotypic features: developmental delay (DD), motor delay, language impairment, behavioral problems, ASD/autistic features.
N/A
N/A
47217000
0
1
1
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
mullegama_13_ASD/DD/ID_discovery_cases-caseDECIPHER_254507
N/A
N/A
DD and ASD/autistic features
N/A
N/A
125486467
172604532
47118066
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
mullegama_13_ASD/DD/ID_discovery_cases-caseDECIPHER_254507
Unknown
Unknown
Unknown
LINC01941,YWHAZP2,RNU6-675P,TEX51,RNU7-182P,NIFKP9,RNU6-1147P,PROC,MIR4783,RNU4-48P,SFT2D3,RNY4P7,RNU6-395P,DYNLT3P2,RNA5SP103,ISCA1P6,PPIAP65,RPL22P7,RAB6C,KLF2P1,CYP4F27P,RNU6-1049P,CCDC74B,TUBA3E,RHOQP3,NOC2LP1,MED15P5,MTND1P29,MTND2P22,MTCO1P7,MTCO2P7,MTATP6P7,MTCO3P7,MTND4P27,MTND5P29,MTND6P8,MTCYBP8,CCDC115,IMP4,FAR2P2,KLF2P2,RNU6-473P,CFC1B,RNU6-848P,CYP4F30P,KLF2P3,GPR148,CYCSP8,NEK2P4,NF1P8,MED15P8,RNU6-127P,KLF2P4,ARHGAP42P1,RAB6D,MTCYBP10,MTND6P10,MTND5P23,MTND4P21,MTND3P18,MTCO3P18,MTATP6P4,MTCO2P18,MTND2P18,MTND1P26,MED15P3,LINC01120,GNAQP1,NOC2LP2,RHOQP2,MIR4784,MED15P4,RNU6-617P,GRAMD4P8,C2orf27B,RNU6-1132P,RNA5-8SP5,MIR663B,CDC27P1,FAM201B,RNU6-175P,YBX1P7,RN7SKP103,RNU6-579P,RN7SKP154,NCKAP5-IT1,RN7SKP93,MIR3679,RNA5SP104,EDDM3CP,VDAC2P4,MIR5590,SNORA40B,RNU6-512P,MIR128-1,CXCR4,UBBP1,RN7SKP141,SMC4P1,RNA5SP105,LINC01832,YWHAEP5,RN7SKP286,YY1P2,AHCYP4,MRPS18BP2,RN7SL283P,MTCO1P44,MTND2P19,MTND1P27,MIR7157,RNU6-904P,UBE2V1P14,MTCYBP11,MTND6P11,MTND5P24,MTND4LP12,MTND3P9,MTCO3P5,MTCO2P5,ZEB2-AS1,LINC01966,RPL6P5,RNU7-2P,RNU6-692P,RNU6-715P,RNA5SP106,RNU6-1275P,RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,RNU6-601P,FABP5P10,MIR4773-2,MIR4773-1,RN7SL124P,RPL30P2,UBQLN4P2,ATP5PBP4,RPRM,DNAJA1P2,PHBP4,RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,CDK7P1,RN7SKP281,FAM133DP,RNU6-436P,RNU6-932P,PTP4A1P1,UPP2-IT1,HNRNPDLP2,RN7SL393P,OR7E89P,OR7E28P,RNU2-21P,BTF3L4P2,RNU6-580P,GSTM3P2,MIR6888,MIR4785,RN7SL423P,LINC01806,RNA5SP108,TBR1,AHCTF1P1,KRT18P46,RPEP5,TIMM8AP1,EIF3EP2,GCG,RNA5SP109,RPL7P61,RNU6-627P,PRPS1P1,CYP2C56P,SNORA70F,RNA5SP110,RNA5SP111,MAPRE1P3,RN7SKP152,RNU7-148P,CTAGE14P,RN7SL813P,MIR4774,RNU6-766P,CERS6-AS1,PHOSPHO2,PTCHD3P2,RNU6-1006P,HMGB1P4,LINC01124,SP5,EIF2S2P4,DAP3P2,RPL21P38,RNU6-182P,DLX1,DLX2,DLX2-DT,ITGA6-AS1,LINC01889,GYPC,BIN1,CYP27C1,MAP3K2,IWS1,MYO7B,GPR17,POLR2D,AMMECR1L,SAP130,HS6ST1,LINC01854,LINC02572,PLAC9P1,LINC01856,RAB6C-AS1,ARHGAP42P2,POTEF,MED15P9,MZT2B,PTPN18,CYP4F62P,POTEI,PRSS40A,CFC1,POTEJ,FAR2P3,AMER3,POTEE,FAR2P4,MTCO1P18,TUBA3D,CCDC74A,LINC01087,ZNF806,CCNT2,UBXN4,MCM6,DARS-AS1,HNRNPKP2,HNMT,MTND4P22,RPL17P12,PABPC1P2,LINC01911,MMADHC,LINC01817,LINC01920,NMI,TNFAIP6,RIF1,ARL5A,ARL6IP6,RPL23AP29,NR4A2,LINC01958,ERMN,OR7E90P,MARCH7,LY75,LINC02478,FAP,GCA,SLC38A11,GALNT3,XIRP2-AS1,B3GALT1,SPC25,G6PC2,UBE2V1P6,BBS5,KLHL41,FASTKD1,CCDC173,SSB,METTL5,GAD1,GORASP2,METTL8,CYBRD1,METAP1D,PDK1,ERCC3,LIMS2,WDR33,UGGT1,SMPD4,PRSS40B,ARHGEF4,PLEKHB2,MZT2A,POTEKP,C2orf27A,LINC01945,ANKRD30BL,GPR39,LYPD1,TMEM163,CCNT2-AS1,ACMSD,MAP3K19,RAB3GAP1,R3HDM1,LCT,DARS,SPOPL,NXPH2,LINC01853,KYNU,GTDC1,ZEB2,LINC01412,ORC4,MBD5,EPC2,LYPD6B,LYPD6,LINC01931,LINC01818,RND3,RBM43,NEB,STAM2,FMNL2,PRPF40A,LINC01850,KCNJ3,GPD2,CYTIP,ACVR1C,ACVR1,UPP2,CCDC148-AS1,PKP4,PKP4-AS1,DAPL1,TANC1,WDSUB1,CD302,LY75-CD302,PLA2R1,ITGB6,TANK,PSMD14,DPP4,IFIH1,FIGN,GRB14,COBLL1,SCN3A,SCN2A,TTC21B,TTC21B-AS1,SCN1A,SCN9A,SCN7A,XIRP2,STK39,CERS6,ABCB11,DHRS9,LRP2,PPIG,KLHL23,MYO3B,ERICH2,TLK1,DCAF17,DYNC1I2,ITGA6,FAR2P1,FAM168B,NCKAP5,ZRANB3,THSD7B,LRP1B,ARHGAP15,TEX41,ACVR2A,KIF5C,CACNB4,GALNT13,LINC01876,GALNT5,CCDC148,RBMS1,SLC4A10,KCNH7,CSRNP3,NOSTRIN,UBR3,SLC25A12,HAT1,BAZ2B,MGAT5
Controls
No Control Data Available
No Animal Model Data Available