Copy Number Variants / 13q33.1-q34

13q33.1-q34

Type
Deletion
Average Length
11935047
Range
100510439-114114568
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
3
Populations
3 (3 case / 0 control)
Individuals
8 (8 case / 0 control)
Summary

Summary statement in development

Reports related to 13q33.1-q34 (3 Reports)
# Type Title Author, Year
1 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
2 Minor The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. Tzetis M , et al. (2012)
3 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
Show all Case Details Show all Cohort Details

13q33.1-q34

Description:

Patients referred for aCGH analysis from 2008-present

Diagnosis:

Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)

Tzetis M , et al. (2012)
Cohort Size: 334

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 13600000

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1-q34

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 13123353

Deletion: 2
Duplication: 0

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1-q34

Description:

Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: 20
Female: 80
Unknown: -
CNV Size: 13469336

Deletion: 5
Duplication: 0

Total CNV: 5
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

tzetis_12_DD/ID_discovery_cases-case77

Clinical Profile:

Cranio-fronto-nasal-dysplasia, heart defects, camptodactyly, hypoplastic nails, ASD

Cognitive Profile:

-

Tzetis M , et al. (2012)
Primary Diagnosis: ASD

Age: -

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 100510439
CNV End: 114114568
CNV Size: 13600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: UCSC NCBI36/hg18
Gene Content: NALCN, ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A, CHAMP1

nguyen_13_DD/ID/MCA/ASD_discovery_cases-251238

Clinical Profile:

Database: DECIPHER. Indication for study: Anaemia, broad base to nose, clinodactyly, hypertelorism, long philtrum, lung hypoplasia/agenesis, nuchal bleb/cystic hygroma of neck, pleural effusion/chylothorax, thin upper lip

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: Dysmorphic features

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 104349523
CNV End: 115092576
CNV Size: 10743053
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg19
Gene Content: DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, TMEM255B, GAS6, RASA3, CDC16, UPF3A, CHAMP1

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC30806

Clinical Profile:

Database: Signature. Indication for study: Not Specified. Karyotype: der(13)t(13;20) w/~9Mb 20p gain

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 104491643
CNV End: 115169878
CNV Size: 10678235
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg19
Gene Content: DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, TMEM255B, GAS6, RASA3, CDC16, UPF3A, CHAMP1

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36693

Clinical Profile:

Database: Signature. Indication for study: Dysmorphic Features, ring 13 chromosome

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: Dysmorphic features

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 104353846
CNV End: 115077941
CNV Size: 10724095
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg19
Gene Content: DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, TMEM255B, GAS6, RASA3, CDC16, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40762

Clinical Profile:

Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, 46,XX,der (13)t(2;13)(p25.1;q32) w/~5Mb 2p gain

Cognitive Profile:

Developmental delay

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 101700542
CNV End: 115169878
CNV Size: 13469336
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal (balanced carrier)
Family Profile: Unknown
Genome Build: hg19
Gene Content: NALCN, ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, TMEM255B, GAS6, RASA3, CDC16, UPF3A, CHAMP1

nguyen_13_DD/ID/MCA/ASD_discovery_cases-DGDP067A

Clinical Profile:

Database: DGDP. Indication for study: Mixed receptive-expressive language delay, torticollis, multiple congenital anomalies, microcephaly, dysmorphic features.

Cognitive Profile:

Developmental delay

Nguyen LS , et al. (2013)
Primary Diagnosis: Developmental delay and MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 104573948
CNV End: 115169878
CNV Size: 10595931
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg19
Gene Content: DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, TMEM255B, GAS6, RASA3, CDC16, UPF3A, CHAMP1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001172

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 100987397
CNV End: 114110750
CNV Size: 13123353
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A, CHAMP1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001750

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 101564376
CNV End: 114110750
CNV Size: 12546374
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A, CHAMP1
Show all Control Details Show all Cohort Details

13q33.1-q34

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1-q34

Description:

Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.

Diagnosis:

Control

Nguyen LS , et al. (2013)
Cohort Size: 20474

Age Min: -
Age Max: -
Average: -

Male: 20
Female: 80
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

No control individuals reported.

Submit New Gene

Report an Error