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3p13CNV Type: Deletion


Largest CNV size: 3577 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
FOXP1-related intellectual disability syndrome: a recognisable entity.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 169
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 537804
 1
 4
 5
 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
 2459
 1
 0
 1
 le_fevre_13_DD_discovery_cases
 6-year-old male patient (first-born child of non-consanguineous parents with no significant family history)
 1
 Global developmental delay, most notably in the area of speech and language acquisition. No behavioral problems, autistic features, developmental regression, or seizures.
 6 yrs.
 Male
 190000
 1
 0
 1
 meerschaut_17_ID_discovery_cases
 Previously unreported cases with de novo deletions affecting the FOXP1 gene
 11
 10/11 cases presented with intellectual disability (ID), motor delay, and delayed speech and language development, 5/11 cases presented with autistic features. One case (patient 9) died due to complications from diaphragmatic hernia at age of 5 months.
 Range, 5 mos.-10 yrs.
 72.72% Male
 630972
 5
 0
 5
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 104749
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 19867
 2
 0
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 3577
 1
 0
 1
 tabet_12_ASD_discovery_cases
 Three affected siblings from an autism multiplex family born to non-consanguineous parents.
 3
 Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
 Range, 17 yrs. 6 mos.-21 yrs.
 100% Male
 95220
 1
 0
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 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)
 Range, 1 month-38 years (median age of 4 years)
 
 83000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 132450
 1
 1
 2
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 19867
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 3600
 2
 0
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 le_fevre_13_DD_discovery_cases
  Caucasian
 aCGH
  BlueGnome 60K Oligo ISCA
 
 BlueMulti v2.3
 FISH
 meerschaut_17_ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 tabet_12_ASD_discovery_cases
  Mixed ethnic background (father Caucasian, mother from Mauritius)
 Solid phase hybridization
  Illumina HumanCNV370-Duo BeadChip
 CNVPartition v3.1.1, Penn CNV
 BeadStudio v3.2
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  celestino-soper_11_ASD_discovery_cases-11399
 NA
 M
 ASD
 NA
 NA
 71753331
 71753500
  170
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13075_893
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 73032732
 73075649
  42918
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13153_1703
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 73032732
 73165182
  132451
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3169_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 73053324
 73591128
  537805
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3607_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 72541749
 72641494
  99746
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case9759_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 73173721
 73258306
  84586
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258506
 N/A
 M
 Developmental delay
 Low-set posteriorly rotated ears; Abnormality of the pinna; Congenital bilateral ptosis; Myopia; Downturned corners of mouth; Curly hair; Clinodactyly of the 5th finger; Single transverse palmar crease; Sparse scalp hair; Increased laxity of fingers; Global developmental delay; Delayed speech and language development
 
 71052793
 71055252
  2460
 GRCh38
 Deletion
 No
  le_fevre_13_DD_discovery_cases-case1
 6 yrs.
 M
 Developmental delay
 Birth/neonatal history: born after normal pregnancy at term by C-section; birth weight of 3.2 kg (25th %ile), length of 48 cm (25th %ile), and OFC of 36.5 cm (75th %ile); feeding problems ater successful early breastfeeding, failure-to-thrive at 11 weeks of age (resolved by introdcution of solids by 6 months); oro-motor dysfunction with excessive drooling, difficulty sipping from cup, and ongoing problems with chewing some solids. Developmental milestones: global developmental delay, most notably in the area of speech and language acquisition; first words at 17 months, 6 words at age of 2.5 years (understood approximately 50 at this age), sentences not spoken until age of 4 years 4 months; delayed motor milestones (rolled and sat unsupported at 12 months, cruised from 16 months, walking at 25 months, coarse pincer grip at 17 months; partial toilet training at 7 years, remained incontinent of urine at day and night. Langauge and communication evaluation: Severely delayed receptive and expressive language (receptive language more advanced); articulation problems included moderate-to-severe difficulty pronouncing consonants; speech not dyspraxic. Motor and musculoskeletal evaluation: occupational therapy resulted in significant improvement, but Miller Function and Participation Scales (M-FUN) motor development score at age of 7 years was in low range. Behavioral/psychiatric evaluation: no behavioral problems or autistic features. Epilepsy/seizures: none. Brain imaging: cerebral MRI at age of 16 months showed prominent ventricles, but no other abnormalities. Vision and hearing: normal. Other features: past history of moderate, well-controlled asthma. Dysmorphic features: prominent forehead, down-slanting palpebral fissures, flat malar region, short nose with broad tip, prominent digit pads, bilateral clinodactyly of 4th toes. Growth parameters: height of 115.3 cm (25th %ile), weight of 21 kg (40th %ile), and OFC of 55 cm (0.5 cm above 98th %ile) at 6.5 years of age. Family history: first-born child of non-consanguineous parents; no significant family history.
 Global developmental delay
 70992485
 71180270
  187786
 GRCh38
 Deletion
 Yes
  meerschaut_17_ID_discovery_cases-patient1
 2.5 yrs.
 F
 Intellectual disability and autistic features
 Birth/neonatal history: born at term; birth weight of 2740 g (-1.3 SD, 3rd-10th %ile), length of 47.5 cm (-0.7 SD, 3rd-10th %ile), and head circumference of 33.5 cm (-0.7 SD, 10th %ile). Developmental milestones: mild/moderate motor delay, delayed speech and language development (first words > 3 years of age), expressive language delay. Language and communication evaluation: articulation problems, poor grammar, oromotor dysfunction. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity). Behavioral/psychiatric evaluation: autistic features. Brain imaging: normal. Ophthalmological evaluation: strabismus, hypermetropia. Additional medical history: feeding difficulties. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, downslanting palpebral fissures, bent palpebral fissures, ptosis, short nose, broad nasal tip, pronounced nasolabial folds, wide mouth, full lips, pronounced vermillion border, chin with horizontal crease, single palmar crease. Growth parameters: weight <3rd %ile, length 3rd-10th %ile, BMI 10th %ile, head circumference 25th-50th %ile.
 Mild/moderate intellectual disability
 70900526
 71317346
  416821
 GRCh38
 Deletion
 No
  meerschaut_17_ID_discovery_cases-patient12
 7.5 yrs.
 M
 Intellectual disability
 Case also present in DECIPHER database (DECIPHER ID 274063). Birth/neonatal history: born at 36 + 1 weeks with a birth weight of 2500 g (3rd %ile), length of 46 cm (3rd %ile), and head circumference of 35 cm (50th %ile). Developmental milestones: severe motor delay, delayed speech and language development, expressive language delay. Language and communication evaluation: articulation problems, poor grammar, oromotor dysfunction. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity). Additional medical history: failure to thrive, feeding difficulties; fronto-nasal angioma; subclinical hypothyroidism. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, hypertelorism, downslanting palpebral fissures, ptosis, blepharophimosis, short nose, broad nasal tip, single palmar crease, widely spaced nipples. Growth parameters: weight <3rd %ile, height <3rd %ile, BMI 25th-50th %ile; head circumference not determined.
 Severe intellectual disability
 70519854
 71150825
  630972
 GRCh38
 Deletion
 No
  meerschaut_17_ID_discovery_cases-patient13
 5 yrs.
 F
 Intellectual disability and autistic features
 Case also present in DECIPHER database (DECIPHER ID 284583). Birth/neonatal history: born at term with a birth weight of 3330 g and length of 50 cm (head circumference not determined). Developmental milestones: mild/moderate motor delay, delayed speech and language development, expressive language delay. Language and communication evaluation: articulation problems, poor grammar, oromotor dysfunction. Behavioral/psychiatric evaluation: autistic features. Brain imaging: normal. Ophthalmological evaluation: strabismus, right optic nerve hypoplasia. Additional medical history: feeding difficulies. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, downslanting palpebral fissures, short nose, broad nasal tip, pronounced nasolabial folds, downturned corners of the mouth, open mouth, high palate, single upper incisor, plagiocephaly. Growth parameters: weight 25th-50th %ile, height 20th %ile, BMI 50th %ile, head circumference 25th %ile.
 Mild/moderate intellectual disability
 70980998
 71330485
  349488
 GRCh38
 Deletion
 No
  meerschaut_17_ID_discovery_cases-patient4
 1.67 yrs.
 M
 Intellectual disability and seizures
 Birth/neonatal history: born at term; birth weight of 3100 g (-1 SD, 10th-50th %ile), length of 49.5 cm (-0.5 SD, 10th-50th %ile) and head circumference of 38 cm (+2 SD, 90th-97th %ile). Developmental milestones: mild/moderate motor delay, delayed speech and language development (absent speech), expressive language delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity); clinodactyly, mild syndactyly II-III. Behavioral/psychiatric evaluation: behavioral difficulties. Epilepsy/seizures: seizures. Brain imaging: normal. Congenital anomalies: congenital hip dislocation. Additional medical history: failure to thrive, feeding difficulties; cholestatis, ductal paucity, fibrosis and chronic hepatitis. Dysmorphic features: broad forehead, prominent forehead, ptosis, short nose, broad nasal tip, pronounced nasolabial folds, wide mouth, full lips, pronounced vermillion border, prominent chin, chin with horizontal crease. Growth parameters: weight 25th %ile, height 10th %ile, BMI 50th %ile, head circumference 50th %ile.
 Mild/moderate intellectual disability
 71027879
 71151006
  123128
 GRCh38
 Deletion
 No
  meerschaut_17_ID_discovery_cases-patient7
 3.5 yrs.
 M
 Intellectual disability and autistic features
 Case also present in DECIPHER database (DECIPHER ID 331530). Birth/neonatal history: born at 37 weeks with a birth weight of 3670 g (> 90th %ile), length of 53 cm (> 97th %ile), and head circumference of 36.5 cm (97th %ile). Developmental milestones: mild/moderate motor delay. delayed speech and language development, expressive language delay. Behavioral/psychiatric evaluation: autistic features, behavioral difficulties. Brain imaging: abnormal. Ophthalmological evaluation: strabismus. Congenital anomalies: duplex kidneys with ureterocoele and kidney dysplasia; bilateral cryptorchidism. Dysmorphic features: broad forehead, prominent forehead, downslanting palpebral fissures, ptosis, broad nasal tip, pronounced nasolabial folds, wide mouth, full lips, pronounced vermillion border, downturned corners of the mouth, open mouth, chin with horizontal crease, facial asymmetry. Growth parameters: weight 25th-50th %ile, height 50th %ile, BMI 25th %ile, head circumference 97th %ile.
 Mild/moderate intellectual disability
 70684961
 71048642
  363682
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case116603
 N/A
 M
 DCD/ADHD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
 
 72382752
 72487500
  104749
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case100149
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 73146770
 73157484
  10715
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case122685L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 72855177
 72875043
  19867
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 73326151
 73329728
  3578
 GRCh38
 Deletion
 No
  tabet_12_ASD_discovery_cases-patient1
 21 yrs.
 M
 Autism
 Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
 WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
 74053441
 74148661
  95221
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case71
 
 F
 DD/ID
 Micrognathia, arched palate, hypermetropia, severe speech delay, heart defects
 
 71375125
 71458126
  83002
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB253250_1007841374
  N/A
  N/A
  Control
  No previous psychiatric history
 
  73200593
  73238687
  38095
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
  N/A
  N/A
  Control
  No previous psychiatric history
 
  73032732
  73165182
  132451
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11485.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  73326151
  73329728
  3578
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11521.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  72048376
  72051976
  3601
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11399
 
 
 Unknown
 Simplex
 NA
 EIF4E3
 
 engchuan_15_ASD_discovery_cases-case13075_893
 
 
 Unknown
 
 
 EBLN2,PPP4R2
 
 engchuan_15_ASD_discovery_cases-case13153_1703
 
 
 Unknown
 
 
 EBLN2,RNU6-557P,RNU2-64P,PPP4R2
 
 engchuan_15_ASD_discovery_cases-case3169_4
 
 
 Unknown
 
 
 EBLN2,RNU6-557P,RNU2-64P,CCDC75P1,RNU6-1270P,PPP4R2,PDZRN3
 
 engchuan_15_ASD_discovery_cases-case3607_3
 
 
 Unknown
 
 
 RNU1-62P
 
 engchuan_15_ASD_discovery_cases-case9759_201
 
 
 Unknown
 
 
 CCDC75P1,RNU6-1270P
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258506
 
 
 De novo
 Simplex
 Segregated
 FOXP1
 
 le_fevre_13_DD_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 Segregated
 FOXP1
 
 meerschaut_17_ID_discovery_cases-patient1
 
 
 De novo
 
 
 FOXP1,FOXP1-AS1
 
 meerschaut_17_ID_discovery_cases-patient12
 
 
 De novo
 
 
 COX6CP6,HMGB1P36,RNU6-281P,FOXP1
 
 meerschaut_17_ID_discovery_cases-patient13
 
 
 De novo
 
 
 FOXP1,FOXP1-AS1
 
 meerschaut_17_ID_discovery_cases-patient4
 
 
 De novo
 
 
 FOXP1
 
 meerschaut_17_ID_discovery_cases-patient7
 
 
 De novo
 
 
 COX6CP6,HMGB1P36,RNU6-281P,FOXP1
 
 mosca_16_DCD_discovery_cases-case116603
 qPCR
 
 Unknown
 Multi-generational
 Unknown
 RYBP
 
 prasad_12_ASD_discovery_cases-case100149
 
 
 Unknown
 Unknown
 Unknown
 PPP4R2
 
 prasad_12_ASD_discovery_cases-case122685L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 tabet_12_ASD_discovery_cases-patient1
 
 
 Maternal
 Multiplex
 Unknown
 AKR1B1P2
 
 tzetis_12_DD/ID_discovery_cases-case71
 
 
 De novo
 Unknown
 
 FOXP1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
 
 
  Unknown
 
 
  EBLN2,RNU6-557P,RNU2-64P,PPP4R2
 
sanders_11_ASD_discovery_controls-11485.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11521.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC00877
 

No Animal Model Data Available
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