7q31.31-q33CNV Type: Deletion
Largest CNV size: 14573895 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion of the 7q31.31-q33 region was identified in a patient from the Deciphering Developmental Disorders (DDD) study that presented with patent ductus arteriosus, midline central nervous system lipomas, and global developmental delay (Fitzgerald et al., 2014).
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
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
14573895
1
0
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
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261321
N/A
F
Developmental delay
Patent ductus arteriosus; Midline central nervous system lipomas; Global developmental delay; Abnormality of the sclera; Short philtrum
121360010
135889211
14529202
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER261321
De novo
Simplex
Segregated
CYCSP19,RN7SKP277,PNPT1P2,RNU7-154P,RPS26P31,RNF133,RNF148,TAS2R16,LYPLA1P1,RNU6-296P,LMOD2,RNU6-11P,HYAL6P,TMEM229A,SSU72P8,RNU6-102P,EEF1GP1,MIR592,PRELID3BP10,ARF5,SND1-IT1,LRRC4,MIR593,MIR129-1,RNU7-27P,RNU7-54P,HILPDA,RNU6-177P,CICP14,IMP3P2,RNA5SP242,RNA5SP243,RN7SL81P,OPN1SW,ATP6V1F,ATP6V1FNB,RN7SL306P,ODCP,CYCSP20,RNY1P11,SNRPGP3,RNU1-72P,SMKR1,RNA5SP244,MIR182,MIR96,MIR183,RNA5SP245,SSMEM1,MESTIT1,MIR335,RNA5SP246,KLF14,MIR29A,MIR29B1,RNU6-1010P,EEF1B2P6,NDUFB9P2,MIR3654,RNU6-92P,MIR6133,COX5BP3,TUBB3P2,MIR6509,SDHDP2,RNU6-1154P,AASS,FEZF1,FEZF1-AS1,SLC13A1,NDUFA5,SPAM1,GPR37,GCC1,FSCN3,PAX4,LEP,PRRT4,IMPDH1,METTL2B,FAM71F2,CALU,CCDC136,FLNC-AS1,KCP,IRF5,TPI1P2,TSPAN33,SMO,STRIP2,KLHDC10,TMEM209,CPA4,CPA5,CPA1,MEST,LINC00513,LINC-PINT,MKLN1-AS,PODXL,FLJ40288,SLC35B4,AKR1B1,AKR1B10,AKR1B15,BPGM,TMEM140,WDR91,STRA8,NUP205,STMP1,SLC13A4,FAM180A,FAM3C,PTPRZ1,IQUB,ASB15,HYAL4,POT1,POT1-AS1,ZNF800,RBM28,FAM71F1,FLNC,AHCYL2,NRF1,UBE2H,CPA2,CEP41,COPG2,TSGA13,MKLN1,PLXNA4,CHCHD3,EXOC4,CALD1,AGBL3,CYREN,CNOT4,CADPS2,WASL,C7orf77,GRM8,SND1,TNPO3,ZC3HC1,LRGUK
Controls
No Control Data Available
No Animal Model Data Available