19p13.13-p12CNV Type: Duplication
Largest CNV size: 10310000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Duplication identified in a patient from the DECIPHER database with global developmental delay and microcephaly as part of a study of gene dosage of the AKAP8 and AKAP8L genes and head circumference
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 Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
10310000
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
nebel_15_DD/ID_discovery_cases-case5
N/A
F
Developmental delay and macrocephaly
DECIPHER ID 284366. Macrocephaly
Global developmental delay
13879186
24117198
10238013
GRCh38
Duplication
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
nebel_15_DD/ID_discovery_cases-case5
CNV validation N/A
Unknown
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,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,RN7SL835P,RN7SL823P,OCEL1,GTPBP3,CCDC194,BST2,TMEM221,NXNL1,INSL3,RPL18A,SNORA68,RNA5SP468,RPS18P13,IFI30,MPV17L2,JUND,MIR3188,RPL39P38,RN7SL513P,MIR3189,LRRC25,ISYNA1,FKBP8,UBA52,REX1BD,RN7SL155P,COMP,HOMER3-AS1,RN7SL70P,RFXANK,RNU6-1028P,HAPLN4,MIR640,NDUFA13,PHF5CP,GMIP,BNIP3P10,BNIP3P13,BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,BNIP3P19,BNIP3P20,MIR1270,BNIP3P22,BNIP3P23,VN1R78P,BNIP3P24,KRT18P40,VN1R80P,RNA5SP469,VN1R81P,RPL7AP10,VN1R82P,RPL36AP51,VN1R83P,BNIP3P25,BNIP3P26,MTDHP3,MTDHP4,VN1R84P,BRI3BPP1,BNIP3P27,MTDHP2,BNIP3P28,BNIP3P29,ZNF92P2,PCGF7P,MTDHP5,VN1R85P,BNIP3P30,BNIP3P31,RPL34P34,BNIP3P32,BNIP3P33,ZNF209P,LINC01233,RNU6-1179P,GOLGA2P9,RN7SL860P,LINC01785,ZNF849P,RPL34P33,VN1R87P,BNIP3P34,BNIP3P35,VN1R88P,BNIP3P36,BNIP3P37,SNX6P1,BNIP3P38,VN1R90P,VN1R91P,BNIP3P8,CDC42EP3P1,VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,RNA5-8SP4,BNIP3P40,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,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TMEM38A,SIN3B,F2RL3,HAUS8,USE1,NR2F6,USHBP1,BABAM1,ANKLE1,DDA1,ANO8,PLVAP,BISPR,SLC27A1,PGLS,FAM129C,UNC13A,MAP1S,FCHO1,B3GNT3,SLC5A5,CCDC124,ARRDC2,MAST3,PIK3R2,RAB3A,IQCN,LSM4,GDF15,SSBP4,KXD1,CRLF1,KLHL26,UPF1,COPE,DDX49,HOMER3,ARMC6,SLC25A42,BORCS8-MEF2B,MEF2B,BORCS8,NR2C2AP,NCAN,SUGP1,MAU2,TSSK6,CILP2,PBX4,LPAR2,ZNF101,ZNF14,LINC00663,BNIP3P9,ZNF253,ZNF682,ZNF90,ZNF826P,ZNF737,ZNF626,VN1R79P,ZNF66,ZNF85,ZNF430,ZNF431,ZNF708,ZNF493,ZNF429,ZNF43,ZNF208,ZNF257,ZNF676,ZNF729,ZNF492,ZNF99,ZNF723,ZNF728,LINC01859,LINC01858,ZNF730,ZNF724,IPO5P1,LINC01224,ZNF725P,ZNF681,ZNF726,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,C19orf44,SMIM7,CPAMD8,MYO9B,ABHD8,MRPL34,MVB12A,COLGALT1,KCNN1,IL12RB1,PDE4C,PGPEP1,ELL,TMEM59L,CRTC1,SUGP2,TMEM161A,TM6SF2,GATAD2A,YJEFN3,ATP13A1,ZNF506,ZNF486,ZNF714,ZNF738,LINC00664,ZNF100,ZNF98,ZNF91,ZNF675,ADGRE3,OR10H2,JAK3,GDF1,CERS1,ZNF93,ZNF254,NWD1
Controls
No Control Data Available
No Animal Model Data Available