Copy Number Variants / 13q33.3-q34

13q33.3-q34

Type
Deletion-Duplication
Average Length
6364784
Range
107454239-115169878
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
3
Populations
3 (3 case / 0 control)
Individuals
17 (17 case / 0 control)
Summary

CNVs within this region were identified in cases from two recent reports (Kaminsky et al., 2011; Nguyen et al., 2013).

Reports related to 13q33.3-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 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
3 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
Show all Case Details Show all Cohort Details

13q33.3-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: 7491737

Deletion: 3
Duplication: 2

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA

13q33.3-q34

Description:

Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

Diagnosis:

34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

Battaglia A , et al. (2013)
Cohort Size: 349

Age Min: 163
Age Max: 163
Average: 163

Male: 100
Female: -
Unknown: -
CNV Size: 7000000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH or array SNP

Validation Method:

FISH or qPCR

Platform: aCGH: BACs aCGH (Integrachip 0.8 Mb), Agilent 44K oligoarray, or Agilent 180K oligoarray; array SNP: Affymetrix 6.0 Chip
Software: -
Algorithm: -
Geographical Ancestry: Italy

13q33.3-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: 9
Female: 91
Unknown: -
CNV Size: 7715639

Deletion: 11
Duplication: 0

Total CNV: 11
Discovery Method:

aCGH (n=45,744 from Signature Genomic Labs)

Validation Method:

FISH

Platform: SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

battaglia_13_DD/ID/ASD_discovery_cases-case24

Clinical Profile:

Autism: no. Epilepsy: yes. Dysmorphic features: yes.

Cognitive Profile:

Moderate DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability and epilepsy

Age: 13 yrs. 7 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 107357927
CNV End: 114293545
CNV Size: 7000000
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-249233

Clinical Profile:

Database: DECIPHER. Indication for study: Depressed/flat nasal bridge, ear lobule, hypohidrotic or dry skin, large ears, intellectual disability/developmental delay, microcephaly, patchy skin defects, prominent heels, scoliosis

Cognitive Profile:

Developmental delay/intellectual disability

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 107627406
CNV End: 114340331
CNV Size: 6826052
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-250838

Clinical Profile:

Database: DECIPHER. Indication for study: Diabetes mellitus/hyperglycaemia, eczema, low birth weight (<3rd centile), intellectual disability/developmental delay, microcephaly, speech delay, non-specific impairment

Cognitive Profile:

Developmental delay/intellectual disability

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 107077084
CNV End: 114319666
CNV Size: 7355709
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-253197

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 109623779
CNV End: 114293545
CNV Size: 4782894
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A

nguyen_13_DD/ID/MCA/ASD_discovery_cases-254265

Clinical Profile:

Database: DECIPHER. Indication for study: Intellectual disability/developmental delay, prominent eyes/proptosis, short stature

Cognitive Profile:

Developmental delay/intellectual disability

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 109055103
CNV End: 114340331
CNV Size: 5398355
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited from normal parent
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-256902

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 108810450
CNV End: 114327144
CNV Size: 5629821
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC7902

Clinical Profile:

Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, karyotype of der(13)t(13;18) w/18q dup

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: 108924440
CNV End: 114319666
CNV Size: 5508353
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16047

Clinical Profile:

Database: Signature. Indication for study: Dysmorphic Features,46,XX,add(13)(q32)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 109062237
CNV End: 114344403
CNV Size: 5455293
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19355

Clinical Profile:

Database: Signature. Indication for study: Hypotonia, karyotype: der(13)t(6;13) w/~5Mb 6p dup

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 109186961
CNV End: 114344403
CNV Size: 5330569
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37103

Clinical Profile:

Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features

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: 106801891
CNV End: 114344403
CNV Size: 7715639
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PPIAP24, SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38843

Clinical Profile:

Database: Signature. Indication for study: Tremors, Known ring 13 (complex mosaic ring with gain from 13q31q33)

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 107163069
CNV End: 114344403
CNV Size: 7354461
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LINC01054, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC59120

Clinical Profile:

Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, Seizure Disorder, Multiple Congenital Anomalies; karyotype of der(13)t(1;13) w/~3Mb 1p gain

Cognitive Profile:

Developmental delay

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 106986602
CNV End: 114326261
CNV Size: 7452786
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000025

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: 108743171
CNV End: 114327173
CNV Size: 5917230
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000916

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: 107918132
CNV End: 114327173
CNV Size: 6742269
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004259

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: 109162657
CNV End: 114327314
CNV Size: 5497885
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814

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: 107918132
CNV End: 114327173
CNV Size: 6742269
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005130

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: 107168805
CNV End: 114327314
CNV Size: 7491737
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, ARHGEF7, LINC01070, CUL4A, UPF3A, MYO16
Show all Control Details Show all Cohort Details

13q33.3-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
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA

13q33.3-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: 9
Female: 91
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
Discovery Method:

N/A

Validation Method:

N/A

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Control Details Show all Cohort Details

No control individuals reported.

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