7p15.3-p14.3CNV Type: Deletion
Largest CNV size: 9744384 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion of the 7p15.3-p14.3 region was identified in a patient from the Deciphering Developmental Disorders (DDD) study that presented with mild intellectual disability (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
9744384
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-DECIPHER258192
N/A
F
Intellectual disability
Intrauterine growth retardation; Proportionate short stature; Clinodactyly of the 5th finger; Webbed neck; Epicanthus; Intellectual disability mild
23148031
32892422
9744392
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-DECIPHER258192
De novo
Simplex
Segregated
MALSU1,SNORD65C,RNU7-143P,RPS2P32,CLK2P1,FCF1P1,PCMTD1P3,TPT1P7,RNA5SP228,NPY,RNU6-1103P,SUMO2P14,SNRPCP19,CYCS,NPVF,TSEN15P3,MIR148A,CBX3,KIAA0087,RPL7AP38,HMGB3P20,TPM3P4,NHP2P2,HOXA1,HOXA2,HOXA4,HOXA5,HOXA7,HOXA10-AS,MIR196B,HOXA10,HOXA11,HOXA11-AS,HOTTIP,RPL35P4,HNRNPA1P73,EIF4HP1,PSMC1P2,RNU6-979P,PPIAP80,TRIL,PRR15,TMSB4XP3,MIR550A3,RPS27P16,MIR550A1,MIR550B1,GGCT,NEUROD6,SNX2P2,SLC25A5P5,MIR550A2,MIR550B2,LINC00997,KLHL7,GPNMB,TRA2A,CCDC126,FAM221A,GSDME,NFE2L3,HNRNPA2B1,C7orf71,HOTAIRM1,HOXA6,HOXA9,HOXA13,EVX1-AS,EVX1,NANOGP4,DPY19L2P3,SCRN1,PLEKHA8,ZNRF2,NOD1,GARS,INMT,AQP1,GHRHR,PPP1R17,LSM5,ZNRF2P1,DPY19L1P2,KBTBD2,NUPL2,IGF2BP3,STK31,MPP6,OSBPL3,SNX10,SKAP2,HOXA3,HOXA-AS2,HOXA-AS3,HIBADH,TAX1BP1,JAZF1,JAZF1-AS1,CPVL,ZNRF2P2,WIPF3,FKBP14,MTURN,GARS-DT,CRHR2,INMT-MINDY4,MINDY4,ADCYAP1R1,ITPRID1,PDE1C,DPY19L1P1,CREB5,CHN2,LINC01176,AVL9,C7orf31
Controls
No Control Data Available
No Animal Model Data Available