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11q13.1CNV Type: Deletion


Largest CNV size: 13709 bp

Statistics Box:
Number of Reports: 11



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrin...
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
A de novo 921Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic ...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 79349
 0
 1
 1
 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
 2250
 2
 0
 2
 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
 176540
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 239885
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 4267
 1
 1
 2
 mohrmann_11_DD_discovery_cases
 21-year-old patient with speech problems, autistic traits, and additional anomalies; first-born to healthy unrelated parents with no family history of developmental delay or congenital anomalies.
 1
 Developmental delay. Case presented with speech problems, autistic traits (no formal diagnosis of autism/ASD), dysmorphic features, and multiple endocrine neoplasia type 1.
 21 yrs.
 Male
 579260
 1
 0
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 343505
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 54318
 0
 1
 1
 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
 13709
 4
 0
 4
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 120810
 1
 0
 1
 yuan_18_DD_discovery_cases
 Third child of healthy unrelated parents with unremarkable family history presenting with a de novo deletion encompassing the NRXN2 gene
 1
 Case presented with developmental delay, absent speech, short stature, failure to thrive, mild anxiety, and dysmorphic features; case did not present with autistic features, and evaluation with Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Modified Checklist for Autism in Toddlers Revised (M-CHAT-R) did not support a diagnosis of ASD.
 2 years 9 months
 Male
 921000
 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
 71853
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 179
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 4526
 1
 0
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 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.
 
 10528
 2
 0
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 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
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 mohrmann_11_DD_discovery_cases
  Caucasian
 aCGH
  Agilent 105A
 
 Feature Extraction v9.5.3, CGH Analytics v3.5.14
 FISH
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 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
 
 
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 yuan_18_DD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS
 WES

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
  brandler_18_ASD_discovery_cases-caseREACH000635
 N/A
 M
 PDD-NOS
 Case from REACH cohort
 
 64053205
 64132554
  79350
 GRCh38
 Duplication
 No (false positive)
  celestino-soper_11_ASD_discovery_cases-11455
 NA
 M
 ASD
 NA
 NA
 65084125
 65086375
  2251
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11455
 NA
 M
 ASD
 NA
 NA
 64299544
 64300448
  905
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4511_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 67074998
 67251538
  176541
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002692
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 67016543
 67256428
  239886
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003778
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 65881597
 65893890
  12294
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11916.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 65014207
 65018474
  4268
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12299.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 65018363
 65021855
  3493
 GRCh38
 Duplication
 Yes
  mohrmann_11_DD_discovery_cases-case1
 21 yrs.
 M
 Developmental delay
 Birth/neonatal history: unremarkable pregnancy; normal birth measurements; Apgar scores of 7/8/8; temporary episode of bradyarrhythmia noted after birth. Developmental milestones: delayed psychomotor development noted at 2 yrs (walked unsupported at 18 months); speech delay (spoke only several words at 4 yrs.); delay in comprehension of spoken language. Behavioral/psychiatric characteristics: autistic traits (aggression following changes in routine); no formal diagnosis of autism/ASD. Other health concerns: development of Zollinger-Ellison syndrome caused by gastrinoma of pancreas at 18 years; fusiform aneurysm of aortic arch that did not require treatment noted at 10 years; abdominal CT scan showed horseshoe kidney. Dysmorphic features: broad nasal base, slight synophrys, retrognathia, multiple naevi distributed all over body, digital abnormalities (broad thumb with short distal phalanx & short middle phalanx of 5th finger at left hand). Growth parameters: height, 170 cm (-1.1 SD); weight, 77 kg (+1 SD); head circumference, 55.5 cm (-0.6 SD); all within normal range. Family history: case was born to healthy, unrelated parents and has 19-yr-old normally-developing sister; no family history of developmental delay, congenital anomalies, or miscarriages.
 Nonverbal IQ (as measured by culture fair test at 13 yrs.): 113
 64591193
 65160454
  569262
 GRCh38
 Deletion
 Yes
  nord_11_ASD_discovery_cases-256-1
 
 
 ASD
 
 
 64914514
 65258018
  343505
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 64004528
 64058845
  54318
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 65026266
 65039975
  13710
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11860.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
 64915478
 64926132
  10655
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11986.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
 65639939
 65650803
  10865
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12454.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
 67352625
 67357752
  5128
 GRCh38
 Deletion
 No
  wenger_16_ASD_discovery_cases-case35
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 64139607
 64260416
  120810
 GRCh38
 Deletion
 No
  yuan_18_DD_discovery_cases-case1
 2 yrs. 9 mos.
 M
 Developmental delay
 Birth/neonatal history: mother treated with progesterone while pregnany due to signs of spontaneous abortion; delivered at 38 weeks gestation by normal delivery; birth weight of 3000 g (-1 SD) and length of 50 cm (-0.8 SD); Apgar scores 9; no feeding problems noted; referred to clinic at 9 months due to difficulty gaining weight and global developmental delay. Developmental milestones: delayed milestones (raised head at 4 months, sat alone at 10 months, could not independently stand, no language development. Language and communication evaluation: absent speech (no language development at 2 years 9 months). Motor and musculoskeletal evaluation: delayed closure of cranial fontanelles and sutures; able to walk without assistance with unsteady gait and frequent falls. Behavioral/psychiatric evaluation: mild-anxiety like behavior in the open field; no autistic features (good eye contact, showed signs of empathy, no repetitive or stereotyped behavior); evaluation with Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Modified Checklist for Autism in Toddlers Revised (M-CHAT-R) did not support a diagnosis of ASD. Brain imaging: normal brain MRI. Additional medical history: nocturnal urine and fecal incontinence; reduced levels of IGF1 and IGFBP3. Dysmorphic features: protruding forehead, flat facial profile, low-set ears, ptosis, broad nose with anteverted nares, downturned corners of the mouth, teeth dysplasia, retrognathia. Growth parameters: short stature, failure to thrive; weight of 11.2 kg (< -2 SD), height of 88.0 cm (-2 SD), and head circumference of 46.4 cm (< -2 SD). Family history: third child of healthy unrelated parents (both sisters were healthy); unremarkable family history.
 Appeared to have normal cognitive competence
 64354519
 65275167
  920649
 GRCh38
 Deletion
 Yes

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-controlHABC_902862_902862
  N/A
  N/A
  Control
  No previous psychiatric history
 
  64363404
  64435257
  71854
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control14110.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 14110. SRS score of 39.
 
  64801578
  64801757
  180
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11916.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  65014207
  65018733
  4527
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11330.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  65504361
  65510990
  6630
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11445.s1
  9.5
  F
  Control (matched sibling)
  NA
  NA
  67141279
  67151807
  10529
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseREACH000635
 SNP VCF
 
 Unknown
 
 
 FLRT1,MACROD1
 
 celestino-soper_11_ASD_discovery_cases-11455
 
 
 Unknown
 Simplex
 NA
 ZFPL1,TMEM262,CDCA5
 
 celestino-soper_11_ASD_discovery_cases-11455
 
 
 Unknown
 Simplex
 NA
 KCNK4,KCNK4-TEX40,CATSPERZ
 
 engchuan_15_ASD_discovery_cases-case4511_1
 
 
 Unknown
 
 
 KDM2A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002692
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR6860,SYT12,RHOD,KDM2A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003778
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FIBP,CCDC85B,CTSW,FOSL1
 
 krumm_15_ASD_discovery_cases-case11916.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ARL2,ARL2-SNX15
 
 krumm_15_ASD_discovery_cases-case12299.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 ARL2,MIR6879,ARL2-SNX15
 
 mohrmann_11_DD_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 Likely segregated
 MEN1,MIR194-2HG,MIR192,MIR194-2,MIR6750,MIR6749,GPHA2,ARL2,MIR6879,NAALADL1,ZFPL1,TMEM262,TM7SF2,ZNHIT2,FAU,MIR6751,HIGD1AP10,RNU2-23P,PDCL2P2,SLC22A12,RASGRP2,SF1,MAP4K2,CDC42BPG,ATG2A,PPP2R5B,MAJIN,BATF2,ARL2-SNX15,SNX15,SAC3D1,CDCA5,VPS51,SYVN1,MRPL49,NRXN2,PYGM,EHD1
 
 nord_11_ASD_discovery_cases-256-1
 
 
 Paternal
 
 
 EHBP1L1,FAM89B,KAT5,KCNK7,LTBP3,MALAT1,MAP3K11,NEAT1,PCNXL3,RELA,RNASEH2C,SCYL1,SIPA1,SSSCA1,FRMD8
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
 qPCR (CNV not detected)
 
 Bi-parental
 Unknown
 Unknown
 MACROD1
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ARL2-SNX15,SNX15
 
 sanders_11_ASD_discovery_cases-11860.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 ATG2A,PPP2R5B
 
 sanders_11_ASD_discovery_cases-11986.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 MIR4489,SIPA1
 
 sanders_11_ASD_discovery_cases-12454.p1
 
 
 Paternal
 Simplex (trio)
 NA
 POLD4,RAD9A
 
 wenger_16_ASD_discovery_cases-case35
 
 
 Unknown
 
 
 NUDT22,DNAJC4,VEGFB,PPP1R14B,STIP1,FERMT3,FKBP2,PLCB3,MACROD1,TRPT1
 
 yuan_18_DD_discovery_cases-case1
 WES
 
 De novo
 Simplex
 Segregated
 RPS6KA4,MIR1237,MEN1,MIR194-2HG,MIR192,MIR194-2,MIR6750,MIR6749,GPHA2,ARL2,MIR6879,NAALADL1,ZFPL1,TMEM262,TM7SF2,ZNHIT2,FAU,MIR6751,HIGD1AP10,RNU2-23P,PDCL2P2,SPDYC,SLC22A11,SLC22A12,RASGRP2,SF1,MAP4K2,CDC42BPG,ATG2A,PPP2R5B,MAJIN,BATF2,ARL2-SNX15,SNX15,SAC3D1,CDCA5,VPS51,SYVN1,MRPL49,PGAM1P8,CAPN1,SLC22A20P,CCDC88B,NRXN2,PYGM,EHD1,POLA2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902862_902862
 
 
  Unknown
 
 
  RPS6KA4,MIR1237
 
krumm_13_ASD_discovery_controls-control14110.s1
 
 
  Paternal
  Simplex
 
  MAP4K2
 
krumm_15_ASD_discovery_controls-control11916.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ARL2,MIR6879,ARL2-SNX15
 
sanders_11_ASD_discovery_controls-11330.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MALAT1
 
sanders_11_ASD_discovery_controls-11445.s1
 
 
  Maternal
  Simplex (quad)
  NA
  KDM2A
 

No Animal Model Data Available
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