9p24.3-p24.1CNV Type: Deletion
Largest CNV size: NA bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Neither the size nor the precise breakpoints for this deletion, identified in a autistic patient with developmental delay, were provided in the original report; as such, the exact gene content of this deletion is unknown.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic
Deletion
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
5380282
1
0
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
5013785
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
8230934
1
0
1
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
7994895
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
5098877
1
2
3
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
6748471
4
0
4
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
7310000
1
0
1
mitrakos_24_ASD/DD/ID_discovery_cases
Patients who were referred for CMA analysis to the Laboratory of Medical Genetics of the National and Kapodistrian University of Athens between 2008 and 2023.
1600
Cases presented with autism spectrum disorder (ASD), developmental delay (DD) and/or intellectual disability (ID) with or without multiple congenital anomalies
4958414
1
0
1
schaefer_10_ASD_discovery_cases
Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
68
Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
NA
1
0
1
trakadis_21_NDD/NPD_discovery_cases
Individuals referred to the adult neuropsychiatric genetics clinic at the McGill University Health Centre (MUHC) between January 2017 and December 2019.
34
All cases had developmental or neuropsychiatric disorders, including global developmental delay (GDD), ID, ASD, psychiatric and behavioral disorders, and one of the following: (i) positive family history for ID or psychiatric/behavioral disorders, (ii) congenital malformations or dysmorphisms, (iii) unusual imaging or laboratory findings, and (iv) atypical presentation of a psychiatric disorder; all formal diagnoses followed DSM-5 diagnostic criteria.
Age: 16 yrs. and over
N/A
6055496
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
mitrakos_24_ASD/DD/ID_discovery_cases
Greece
aCGH
Agilent Human Genome 4x180K
ADM-1
Agilent CytoGenomics v.5.0.2
schaefer_10_ASD_discovery_cases
aCGH
Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
GenePix Pro 6.0, SpectralWare CGH analysis software
FISH
trakadis_21_NDD/NPD_discovery_cases
Canada
Targeted gene sequencing
GeneDx ID/ASD panel
N/A
N/A
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_24_ASD/ADHD/DD/ID_discovery_cases-case48
9.7 yrs.
F
Developmental delay and seizures
Developmental milestones: delayed speech and language development (HP:0000750). Motor and musculoskeletal evaluation: spasticity (HP:0001257). Behavioral/psychiatric evaluation: atypical behavior (HP:0000708). Epilepsy/seizures: seizure (HP:0001250). Growth parameters: head circumference 47 cm, height 113 cm, weight 20.5 kg.
48827
5429108
5380282
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case1050
M
ASD and intellectual disability
ASD, pectus excavatum and facial dysmorphism.
Intellectual disability
208454
5222238
5013785
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300606
N/A
F
Developmental delay/intellectual disability
611628
8842561
8230934
GRCh38
Deletion
Yes
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260952
N/A
F
Developmental delay
Global developmental delay
204104
8198999
7994896
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D589
5 mos. 16 days
M
Developmental delay
203861
5037440
4833580
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D1672
6 yrs. 1 mo.
F
Developmental delay/Intellectual disability
Speech delay
676264
5024479
4348216
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case17D138
2 mos. 15 days
F
Developmental delay
Facial dysmorphism
203861
5302737
5098877
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001587
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
220253
6073001
5852749
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002216
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
211086
6106482
5895397
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002574
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
220253
5140455
4920203
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004861
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
220253
6968724
6748472
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530531
F
Developmental delay and seizures
Global developmental delay (HP:0001263), seizure (HP:0001250), abnormal cardiovascular system morphology (HP:0030680), orofacial cleft (HP:0000202)
1
7310000
7310000
GRCh38
Deletion
No
mitrakos_24_ASD/DD/ID_discovery_cases-case4
6 mos.
F
Seizures
Birth/neonatal history: hypoglycemia during second day of life. Motor and musculoskeletal evaluation: low muscle tone. Epilepsy/seizures: seizures. Brain imaging: dilation of the lateral ventricles (ventriculomegaly) detected by brain ultrasound and subsequent MRI. Additional medical history: ventricular septal defect, patent foramen ovale, patent ductus arteriosus, hydronephrosis, renal cysts, enlarged left lateral abdomen. Dysmorphic features: hypoplastic lower jawbone, low-set ears, sandal gap, increased distance between the nipples, macroglossia, big forehead, hypertrichosis, deep-set eyes, low hairline. Family history: first child of healthy non-consanguineous parents, mother is a carrier of a balanced translocation between chromosomes 9 and 10 (46,XX,t(9;10)(p24;p13)).
204193
5162606
4958414
GRCh38
Deletion
No
schaefer_10_ASD_discovery_cases-case4
NA
NA
Autism
Simple (non-syndromic autism). Delayed speech and motor skills. Behavior problems. No dysmorphisms.
Developmental delay
NA
NA
NA
Unknown
Deletion
Yes
trakadis_21_NDD/NPD_discovery_cases-case11
NA
NA
Intellectual disability and major depressive disorder
Behavioral/psychiatric evaluation: major depressive disorder. Additional medical history: unspecified neurological abnormalities, gastrointestinal abnormalities, nephrological abnormalities, ophthalmological abnormalities, and endocrinological abnormalities. Family history: not available.
Intellectual disability, memory loss
209019
6264514
6055496
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_24_ASD/ADHD/DD/ID_discovery_cases-case48
Unknown
DMRT1,FOXD4,AK3,SPATA6L,CDC37L1,PLGRKT,DMRT3,CBWD1,DOCK8,GLIS3-AS1,ATP5PDP2,DOCK8-AS1,KCNV2,GLIS3,INSL4,IGHEP2,GPS2P1,PLPP6,MIR101-2,VLDLR-AS1,HMGN2P31,TCF3P1,CARM1P1,HNRNPA1P41,PDSS1P1,JAK2,RPL12P25,RPS27AP14,WASHC1,RNF152P1,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RLN1,RFX3,RLN2,CDC37L1-DT,LINC01231,LINC01388,PGM5P3-AS1,LINC01230,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,H3P29,RCL1,PUM3,DMRT2,INSL6,KANK1
chaves_24_ASD/DD/ID_discovery_cases-case1050
Unknown
DMRT1,AK3,SPATA6L,CDC37L1,DMRT3,DOCK8,GLIS3-AS1,ATP5PDP2,DOCK8-AS1,KCNV2,GLIS3,IGHEP2,GPS2P1,PLPP6,MIR101-2,VLDLR-AS1,TCF3P1,CARM1P1,HNRNPA1P41,PDSS1P1,JAK2,RPL12P25,RPS27AP14,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RFX3,CDC37L1-DT,LINC01231,LINC01230,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,H3P29,RCL1,PUM3,DMRT2,INSL6,KANK1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300606
qPCR
Unknown
EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,LINC01230,SMARCA2,GLIS3,PTPRD
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260952
Maternal
De novo
Multi-generational
Not segregated
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,LINC01230,SMARCA2,GLIS3
han_22_ASD/DD/ID_discovery_cases-case15D589
De novo
DMRT1,AK3,SPATA6L,CDC37L1,DMRT3,DOCK8,GLIS3-AS1,ATP5PDP2,DOCK8-AS1,KCNV2,GLIS3,GPS2P1,PLPP6,MIR101-2,VLDLR-AS1,CARM1P1,HNRNPA1P41,JAK2,RPL12P25,RPS27AP14,ECM1P1,KLF4P1,EIF1P1,RNA5SP279,RFX3,CDC37L1-DT,LINC01231,LINC01230,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,RN7SL592P,RNU6-1073P,RNU6-1327P,H3P29,RCL1,PUM3,DMRT2,KANK1
han_22_ASD/DD/ID_discovery_cases-case16D1672
De novo
DMRT1,AK3,SPATA6L,CDC37L1,DMRT3,GLIS3-AS1,ATP5PDP2,KCNV2,GLIS3,GPS2P1,PLPP6,MIR101-2,VLDLR-AS1,CARM1P1,HNRNPA1P41,JAK2,RPS27AP14,ECM1P1,KLF4P1,RNA5SP279,RFX3,CDC37L1-DT,LINC01231,LINC01230,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,RN7SL592P,RNU6-1073P,H3P29,RCL1,PUM3,DMRT2,KANK1
han_22_ASD/DD/ID_discovery_cases-case17D138
De novo
DMRT1,AK3,SPATA6L,CDC37L1,DMRT3,DOCK8,GLIS3-AS1,ATP5PDP2,DOCK8-AS1,KCNV2,GLIS3,INSL4,IGHEP2,GPS2P1,PLPP6,MIR101-2,VLDLR-AS1,TCF3P1,CARM1P1,HNRNPA1P41,PDSS1P1,JAK2,RPL12P25,RPS27AP14,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RFX3,RLN2,CDC37L1-DT,LINC01231,LINC01230,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,H3P29,RCL1,PUM3,DMRT2,INSL6,KANK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001587
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,LINC01230,SMARCA2,GLIS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002216
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,LINC01230,SMARCA2,GLIS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002574
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,LINC01230,SMARCA2,GLIS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004861
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,LINC01230,SMARCA2,GLIS3
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530531
Unknown
MLANA,DMRT1,FOXD4,RANBP6,CD274,AK3,SPATA6L,CDC37L1,PLGRKT,DMRT3,RIC1,CBWD1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,IL33,TPD52L3,UHRF2,ATP5PDP2,DOCK8-AS1,KIAA2026,KCNV2,GLIS3,INSL4,IGHEP2,GLDC,GPS2P1,PLPP6,SNRPEP2,MIR101-2,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,FAM138C,TCF3P1,AK4P4,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RPL12P25,DDX11L5,RPS27AP14,WASHC1,RNF152P1,ACTG1P14,ECM1P1,KLF4P1,CSNK1G2P1,MIR1302-9,EIF1P1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,RLN1,RFX3,RLN2,CDC37L1-DT,LINC01231,LINC01388,PGM5P3-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RN7SL123P,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,MIR1302-9HG,H3P29,RCL1,PUM3,DMRT2,INSL6,KDM4C,KANK1
mitrakos_24_ASD/DD/ID_discovery_cases-case4
Unknown
DMRT1,AK3,SPATA6L,CDC37L1,DMRT3,DOCK8,GLIS3-AS1,ATP5PDP2,DOCK8-AS1,KCNV2,GLIS3,IGHEP2,GPS2P1,PLPP6,MIR101-2,VLDLR-AS1,TCF3P1,CARM1P1,HNRNPA1P41,PDSS1P1,JAK2,RPL12P25,RPS27AP14,ECM1P1,KLF4P1,CSNK1G2P1,EIF1P1,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,RFX3,CDC37L1-DT,LINC01231,LINC01230,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,MTND6P5,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-1073P,RNU6-1327P,MTATP6P11,H3P29,RCL1,PUM3,DMRT2,INSL6,KANK1
schaefer_10_ASD_discovery_cases-case4
FISH
Unknown
Unknown
Unknown
NA
trakadis_21_NDD/NPD_discovery_cases-case11
Unknown
MLANA,DMRT1,RANBP6,AK3,CD274,CDC37L1,SPATA6L,PLGRKT,RIC1,DMRT3,DOCK8,ERMP1,PDCD1LG2,IL33,GLIS3-AS1,ATP5PDP2,KCNV2,GLIS3,KIAA2026,DOCK8-AS1,INSL4,IGHEP2,GPS2P1,VLDLR-AS1,MIR101-2,PLPP6,HMGN2P31,PDSS1P1,CARM1P1,AK4P4,TCF3P1,HNRNPA1P41,JAK2,GTF3AP1,RPL12P25,RPS27AP14,RNF152P1,KLF4P1,CSNK1G2P1,ECM1P1,EIF1P1,MIR4665,MTND5P14,RNA5SP279,MTND4P14,MTND1P11,RFX3,RLN1,RLN2,CDC37L1-DT,LINC01231,RFX3-AS1,LINC01230,SLC1A1,VLDLR,SMARCA2,RNU2-25P,RNU6-694P,MTND6P5,MTCO2P11,RNU6-1073P,RN7SL592P,RNU6-1327P,MTCO1P11,MTCO3P11,MTATP6P11,H3P29,PUM3,RCL1,DMRT2,INSL6,KANK1
Controls
No Control Data Available
No Animal Model Data Available