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12q24.21CNV Type: Deletion-Duplication


Largest CNV size: 39405 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Redefining the MED13L syndrome.
Deletion-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.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 adegbola_15_ID/DD_discovery_cases
 Index patients with CNVs affecting the MED13L gene; 6 of these cases are present in DECIPHER database
 7
 Cases predominantly present with mild-moderate or moderate intellectual disability or developmental delay (one case with learning disability); cases also typically presented with delayed speech and language development, motor delay, and muscular hypotonia. Three cases presented with behavioral problems, including one case presenting with autistic behaviors
 Range, 3-15 yrs.
 42.86% Male
 296000
 2
 3
 5
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 17000
 1
 0
 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
 39405
 0
 1
 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
 115534
 0
 1
 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
 74174
 2
 0
 2
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 106000
 0
 1
 1
 sanchis_juan_23_ASD/DD/ID_discovery_cases
 Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
 489
 73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
 NA
 NA
 4357
 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
 16706
 2
 0
 2
 siavriene_23_DD_discovery_cases
 Second of three children born to healthy and unrelated parents found to have a de novo intragenic deletion affecting the MED13L gene; case deposited in DECIPHER (DECIPHER ID 430183).
 1
 Case diagnosed with a mixed specific developmental disorder at 4.5 years.
 5 yrs.
 Male
 97882
 1
 0
 1
 spataro_23_ASD/DD/ID_discovery_cases
 Individuals from the Clinical Genetics Unit at Parc Tauli Hospital Universitari (Sabadell, Spain) between March 2019 and December 2021.
 398
 Cases had a clinical diagnosis of autism spectrum disorder (ASD) or global developmental delay/intellectual disability (DD/ID).
 Average age, 14.5 +/- 11.2 yrs.
 62.06% Male
 15045
 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
 68350
 1
 1
 2
 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
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 3390
 1
 1
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 adegbola_15_ID/DD_discovery_cases
  2 cases of Portuguese descent, 2 cases of Belgian descent, 1 case of American Caucasian descent, 1 case of French descent, and 1 case of Scottish, Irish and Ashkenazi Jewish descent
 aCGH
  Agilent 244K, Agilent 180K, Agilent 180K custom array designed by Low Lands Consortium
 
 arrayCGHbase, Agilent Feature Extraction v10.5, Nexus Copy Number 5.0
 qPCR, RT-PCR
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 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
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 sanchis_juan_23_ASD/DD/ID_discovery_cases
  United Kingdom
 Short-read WGS
  Illumina HiSeq 2500/Illumina HiSeq X
 Canvas v.1.1.0.5, Manta v.0.23.15
 
 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
 
 
 siavriene_23_DD_discovery_cases
  Lithuania
 Solid phase hybridization
  Illumina Human-CytoSNP-12v2.1 BeadChip
 NA
 Illumina GenomeStudio, QuantiSNP v2.1
 qPCR, Sanger sequencing
 spataro_23_ASD/DD/ID_discovery_cases
  Spain
 Targeted gene sequencing
  NNDTauliPanel/Illumina MiSeq
 NA
 XHMM, ExomeDepth
 MLPA or aCGH

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
 
  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
  adegbola_15_ID/DD_discovery_cases-case1
 6 yrs.
 F
 Intellectual disability
 Case in DECIPHER database (no. 296364). Birth/neonatal history: born at 37 weeks; birth weight of 2810 g (10th-25th %ile), length of 48 cm (10th-25th %ile), and OFC of 33 cm (10th %ile, -1.2 SD). Developmental milestones: severely delayed language and motor development (first words spoken after 15 months, unaided walking after 3 years). Language and communication evaluation: demonstrated sentence structure and expressive vocabulary skills significantly below her age on CELF-Preschool test, with challenges particularly in speech intelligibility and verbal comprehension, but with strengths in her social communications skills. Motor and musculoskeletal evaluation: Peabody Developmental Motor Scale at age of 5.5 years revealed Fine Motor Quotient of 73 (12th %ile); Beery Test of Visual Motor Integration score of 66 (1st %ile); bilateral cubitus valgus; adduction of feet; muscular hypotonia, poor coordination without ataxia, normal deep tendon refluxes. Behavioral/psychiatric evaluation: normal, non-autistic behavior. EEG: unknown. Brain imaging: not reported. Additional medical history: chronic ear infections in early childhood, which ceased after insertion of typanostomy tubes at age of 2 years. Visual evaluation: myopia. Dysmorphic features: triangular face, low set ears, bulbous nose, upslanted palpebral fissures, hypertelorism, ptosis, widely spaced teeth, prognathism, short neck, high arched palate. Family history: only affected child of a dizygotic twin pair of healthy, non-consanguineous American Caucasian parents.
 Mild-moderate ID; testing at age of 6 years with Peabody Picture Vocabulary Test revealed standard score of 70 (2nd %ile), equivalent to that expected at chronological age of 3.5 years
 116060177
 116243744
  183568
 GRCh38
 Duplication
 No
  adegbola_15_ID/DD_discovery_cases-case2
 3 yrs.
 M
 Developmental delay
 Case in DECIPHER database (no. 257915). Birth/neonatal history: born at term following pregnancy complicated by gestational diabetes; birth weight of 3050 g (10th-25th %ile), length of 49 cm (10th-25th %ile), and OFC of 35 cm (25th-50th %ile); poor feeding as an infant. Developmental milestones: severely delayed language and motor development (first words spoken at 3 years, unaided sitting and walking at 13 and 24 months, respectively). Motor and musculoskeletal evaluation: muscular hypotonia, facial hypotonia with drooling, ataxia, hyperreflexia without spasticity or pyramidal signs; 5th finger clinodactyly. Behavioral/psychiatric evaluation: autistic behaviors (stereotypic movements, avoidance of eye contact). EEG: unknown. Brain imaging: delayed cortical myelination on cMRI. Visual evaluation: hypermetropia. Dysmorphic features: broad forehead, mild bitemporal narrowing, epicanthal folds, flat and broad nasal bridge, rounded nasal tip, broad columella, low set and posteriorly rotated ears with an uplfit of the ear lobule, marked philtrum, full lips, unilateral cryptorchidism. Growth parameters: weight of 12.5 kg (10th %ile), height of 93 cm (10th %ile), and OFC of 49.5 cm (25th %ile) at age of 3 years. Family history: fourth child of healthy, non-consanguineous Caucasian parents of Belgian descent.
 Cognitive development delayed by 8 months at age of 22 months (Bayley's Scale of Infant Development) and by 20 months at age of 40 months (Bayley's scale II of infant development: developmental index <55)
 116028938
 116153578
  124641
 GRCh38
 Deletion
 Yes
  adegbola_15_ID/DD_discovery_cases-case3
 4 yrs.
 F
 Intellectual disability
 Case in DECIPHER database (no. 255109). Birth/neonatal history: born at term with congenital torticollis and preauricular tags; birth weight of 2590 g (5th-10th %ile, -1.4 SD), length of 47.5 cm (10th-25th %ile, -1.1 SD), and OFC of 33 cm (10th %ile, -1.1 SD). Developmental milestones: global psychomotor delay, severe speech delay; sat at 10 months and walked at 3 years. Langauge and communication evaluation: did not speak any word at age of 4 years but understood simple orders. Motor and musculoskeletal evaluation:. Behavioral/psychiatric evaluation: no autistic behavior. EEG: unknown. Brain imaging: short and thick corpus callosum, cyst from cavum vergae, and arachnoid cyst visible on cMRI. Visual evaluation: severely hyperopic, astigmatism. Dysmorphic features: plagiocepahly, brachycephaly, frontal bossing, frontal hair upsweep, large anterior fontanel, facial asymmetry with macrostomia, upslanting small palpebral fissures, strabismus, short neck. Growth parameters: weight of 14.6 kg (25th-50th %ile), length of 96 cm (10th-25th %ile), and OFC of 51 cm (75th %ile, +1 SD). Family history: first child of healthy, non-consanguineous Caucasian parents of French descent.
 Moderate ID
 115967795
 116031903
  64109
 GRCh38
 Duplication
 Yes
  adegbola_15_ID/DD_discovery_cases-case4
 15 yrs.
 M
 Intellectual disability
 Case in DECIPHER database (no. 272268). Birth/neonatal history: born at 35 weeks of gestation by C-section due to preeclampsia; birth weight of 2230 g (25th %ile), length of 47 cm (25th-50th %ile), and OFC of 33 cm (75th %ile); developed hyaline membrane disease in neonatal period; congenital pneumonia requiring 3 weeks in NICU; neonatal jaundice; one seizure. Developmental milestones: severe speech delay or poor speech (only few words spoken at 15 years of age); motor delay. Language and communication evaluation: only a few words spoken at age of 15 years. Motor and musculoskeletal evaluation: muscular hypotonia, uncoordinated gait; arthrogryposis of the hands, ulnar deviated club hands, camptodactyly of the toes, cutaneous syndactyly of toes 2-3, decreased palmar creases. Behavioral/psychiatric evaluation: agitation, restlessness, overfriedliness, hyperactivity; Vineland Adaptive Behavior Scale (VABS) score of 27 (indicating severely deficient adaptive behavior); Conner's questionnaire revealing hyperkinesia score of 21. EEG: unknown. Brain imaging: no abnormalities reported. Visual evaluation: normal. Auditory evaluation: normal. Additional medical history: recurrent mostly respiratory infections (including episode of pneumonia at age of 4 years), which improved significantly after age of 6 years; still has wheezing episodes at age of 15 years requiring prophylactic medication with the H1-antihistamine and mast cell stabilizer ketotifen. Dysmorphic features: frontal hair upsweep, upslanting palpebral fissures, thick eyebrows with medial flare, wide and depressed nasal bridge, broad nasal tip, low set ears, frontal bossing, wide and often wide mouth with downturned corners, bulbous macrostomia, thick lip vermillion. Growth parameters: weight 50th %ile, height 50th %ile, OFC 10th %ile at age of 15 years. Family history: only child of non-consanguineous parents of Portuguese descent; mother received carbamazepine for epilepsy and ceased anticonsulvant therapy starting 3 months preconception.
 Moderate ID (IQ of 43, Ruth Griffiths developmental scale)
 115970931
 116266498
  295568
 GRCh38
 Duplication
 No
  adegbola_15_ID/DD_discovery_cases-case5
 3 yrs.
 F
 Developmental delay
 Birth/neonatal history: born at term after uneventful pregnancy induced by ICSI; birth weight of 3250 (25th-50th %ile), length of 50 cm (25th-50th %ile), and OFC of 35 cm (50th %ile). Developmental milestones: delayed motor development (unaided sitting and walking at 10 and 21 months, respectively); speech delay (first words spoken at 24 months and further impaired expression). Motor and musculoskeletal evaluation: muscular hypotonia, intoeing, bilateral clinodactyly of the fifth rays of her hands. Behavioral/psychiatric evaluation: aggressive behavior. EEG: no abnormalities. Brain imaging: cMRI revealed periventricular small round signal alterations of the white matter in line with a myelination disorder. Visual evaluation: hypermetropia (+4 dtp), strabismus. Additional medical history: recurrent upper airway infections; one episode of pyelonephritis; three small liver cysts revealed by abdominal ultrasound. Dysmorphic features: broad forehead, slight bitemporal narrowing, epicanthal folds, broad nasal bridge, rounded nasal tip, marked philtrum, full lips, slight uplift of ear lobules. Growth parameters: height of 88 cm (3rd-10th %ile, -1.3 SD), weight of 12.4 kg (<3rd %ile, -2.6 SD), and OFC of 48 cm (25th-50th 5ile) at age of 3 years. Family history: first child of non-consanguineous healthy parents of Belgian descent.
 Global development delayed by 1 year (Bayley's II Scale of Infant Development score <55)
 115982383
 116257970
  275588
 GRCh38
 Deletion
 No
  asadollahi_14_NDD_discovery_cases-case56366
 4.5 yrs.
 F
 Developmental delay
 Developmental delay, hypotonia, gross and fine motor coordination problems, facial dysmorphic features, complex congenital heart defect
 
 116236460
 116253317
  16858
 GRCh38
 Deletion
 Yes
  celestino-soper_11_ASD_discovery_cases-11102
 NA
 M
 ASD
 NA
 NA
 116237681
 116277086
  39406
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case9745_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 114016031
 114131565
  115535
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001955
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 116093407
 116167581
  74175
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005217
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 116019418
 116054358
  34941
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam817Proband8724
 N/A
 M
 ASD
 Additional clinical profile info N/A
 No ID
 115861663
 115967354
  105692
 GRCh38
 Duplication
 No
  sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG008932
 NA
 M
 Intellectual disability
 Patient was of European ancestry and presented with intellectual disability.
 Intellectual disability
 115963302
 115967658
  4357
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11498.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
 113992349
 114009055
  16707
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12091.p1
 4.4
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
 115251426
 115253530
  2105
 GRCh38
 Deletion
 No
  siavriene_23_DD_discovery_cases-case1
 5 yrs.
 M
 Developmental delay
 Case deposited in the DECIPHER database (DECIPHER ID 430183). Birth/neonatal history: born after a full-term uncomplicated pregnancy via vaginal delivery; birth length 51 cm (25th-50th %ile), birth weight 3200 g (10th %ile); Apgar scores of 10 and 10 at 1 and 5 minutes; clubfoot observed at birth (surgically corrected at 2 years). Developmental milestones: normal gross motor development (sat independently at 5 months, walked at 11 months); delayed speech and language development; diagnosed with a mixed specific developmental disorder at 4.5 years. Language and communication evaluation: able to string together 5-6 words to form a sentence, but use of language was irregular. Behavioral/psychiatric evaluation: difficulties concentrating and focusing his attention; normal eating behavior (not fussy about food with a good appetite). EEG: normal. Auditory evaluation: normal hearing. Additional medical history: visual impairment and strabismus diagnosed at 2 years; peculiarities of dermatoglyphics; no congenital cardiac defects. Dysmorphic features: plagiocephaly. Family history: second of three children of healthy and unrelated Lithuanian parents; both siblings are healthy.
 
 116085499
 116183380
  97882
 GRCh38
 Deletion
 Yes
  spataro_23_ASD/DD/ID_discovery_cases-case66
 20.5 yrs.
 M
 Developmental delay and intellectual disability
 Developmental milestones: global developmental delay, motor delay. Motor and musculoskeletal evaluation: bilateral talipes equinovarus, arachnodactyly, camptodactyly. Brain imaging: arachnoid cyst, Chiari malformation. Additional medical history: cryptorchidism, paresthesia. Dysmorphic features: supernumerary nipple, brachycephaly.
 Mild intellectual disability
 116096568
 116111612
  15045
 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_900461_900461
  N/A
  N/A
  Control
  No previous psychiatric history
 
  114567658
  114636008
  68351
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900475_900475
  N/A
  N/A
  Control
  No previous psychiatric history
 
  114531958
  114568632
  36675
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12363.s1
  21.9
  M
  Control (matched sibling)
  NA
  NA
  115105100
  115108490
  3391
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  115251426
  115251532
  107
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 adegbola_15_ID/DD_discovery_cases-case1
 
 
 De novo
 Simplex
 Segregated
 RNU6-1188P,MIR620,SNRPGP18,MED13L
 
 adegbola_15_ID/DD_discovery_cases-case2
 RT-PCR
 
 De novo
 Simplex
 Segregated
 RNU6-1188P,MIR620,MED13L
 
 adegbola_15_ID/DD_discovery_cases-case3
 qPCR
 
 De novo
 Simplex
 Segregated
 MED13L
 
 adegbola_15_ID/DD_discovery_cases-case4
 
 Possibly maternal (mother with epilepsy)
 De novo
 Possible multi-generational (mother with epilepsy)
 Unknown
 RNU6-1188P,MIR620,SNRPGP18,MED13L
 
 adegbola_15_ID/DD_discovery_cases-case5
 
 
 De novo
 Simplex
 Segregated
 RNU6-1188P,MIR620,SNRPGP18,MED13L
 
 asadollahi_14_NDD_discovery_cases-case56366
 MLPA
 
 De novo
 Unknown
 Unknown
 MED13L
 
 celestino-soper_11_ASD_discovery_cases-11102
 
 
 Unknown
 Simplex
 NA
 MED13L
 
 engchuan_15_ASD_discovery_cases-case9745_201
 
 
 Unknown
 
 
 GLULP5,HAUS8P1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001955
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR620,MED13L
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005217
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MED13L
 
 nava_13_ASD_discovery_cases-Fam817Proband8724
 
 
 Paternal
 Simplex
 Unknown
 LINC02463,MED13L
 
 sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG008932
 
 
 Unknown
 Simplex
 
 MED13L
 
 sanders_11_ASD_discovery_cases-11498.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12091.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 siavriene_23_DD_discovery_cases-case1
 qPCR, Sanger sequencing
 
 De novo
 Simplex
 Segregated
 MIR620,SNRPGP18,MED13L
 Western blotting of patient fibroblasts showed approximately fivefold lower MED13L protein levels co
 spataro_23_ASD/DD/ID_discovery_cases-case66
 MLPA or aCGH
 
 Unknown
 
 
 MED13L
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900461_900461
 
 
  Unknown
 
 
  OSTF1P1
 
engchuan_15_ASD_discovery_controls-controlHABC_900475_900475
 
 
  Unknown
 
 
 
 
sanders_11_ASD_discovery_controls-12363.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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