1q41-q43CNV Type: Duplication
Largest CNV size: 20260000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 1q41-q43 duplication that was classified as pathogenic was observed in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features in Maini et al., 2018.
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
20260000
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
maini_18_ASD/DD/ID_discovery_cases-case_unknown100
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
222559365
242824435
20265071
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
maini_18_ASD/DD/ID_discovery_cases-case_unknown100
De novo
Unknown
Unknown
NDUFB1P2,RNU4-57P,CCDC185,SNRPEP10,RNU6-1248P,PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,JMJD4,SNAP47-AS1,MIR5008,CICP26,SEPT14P17,MIR3620,C1orf35,MRPL55,FAM96AP2,GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,RNA5SP19,RNA5SP162,RNA5S1,RNA5S2,RNA5S3,RNA5S4,RNA5S5,RNA5S6,RNA5S7,RNA5S8,RNA5S9,RNA5S10,RNA5S11,RNA5S12,RNA5S13,RNA5S14,RNA5S15,RNA5S16,RNA5S17,RNA5SP18,DUSP5P1,FTH1P2,ISCA1P2,TMEM78,SPHAR,RNU6-180P,RN7SKP276,ACTA1,RNU4-21P,RNA5SP78,HMGN2P19,HMGB1P26,LINC01736,LINC01737,RNA5SP79,RN7SL837P,MIR1182,RNA5SP80,EXOC8,SNRPD2P2,RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,RAC1P7,MIR4671,COA6,LINC01354,IRF2BP2,LINC00184,RNY4P16,RN7SL668P,LINC01348,SNORA14B,MIR4753,RPL23AP23,RPS21P1,MTND6P14,MTND5P19,MTND4P10,MTND4LP21,MTND3P8,MTCO3P46,LDHAP2,LYST-AS1,MIR1537,RNU6-968P,RNU2-70P,ENO1P1,LGALS8-AS1,RPSAP21,RPL35P1,MT1HL1,RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,TAF1A-AS1,MIA3,BROX,FAM177B,TLR5,TP53BP2,GTF2IP20,DEGS1,CNIH4,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,COQ8A,TUBB8P9,ZNF847P,SNAP47,PRSS38,WNT3A,ARF1,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,RHOU,RAB4A,CCSAP,ABCB10,TAF5L,LINC01682,AGT,CAPN9,C1orf198,ARV1,FAM89A,C1orf131,GNPAT,EGLN1,TSNAX,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,TARBP1,LINC01132,TOMM20,GGPS1,B3GALNT2,MTCYBP14,GNG4,ERO1B,LGALS8,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,TAF1A,AIDA,DISP1,CAPN8,CAPN2,FBXO28,NVL,CNIH3,DNAH14,ENAH,EPHX1,PARP1,PSEN2,CDC42BPA,LINC01641,ZNF678,WNT9A,OBSCN,HIST3H2BB,NUP133,GALNT2,PGBD5,TTC13,TRIM67,SPRTN,LINC00582,SIPA1L2,PCNX2,SLC35F3,RBM34,ARID4B,TBCE,LYST,NID1,GPR137B,EDARADD,HEATR1,ACTN2,MTR,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,SUSD4,WDR26,URB2,COG2,TSNAX-DISC1,DISC1,FMN2,RGS7,PLD5
Controls
No Control Data Available
No Animal Model Data Available