16q24.2-q24.3CNV Type: Deletion
Largest CNV size: 2070000 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
665865
1
0
1
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
1921561
6
0
6
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
2255758
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
2231386
2
1
3
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
403000
1
0
1
novara_17_DD/ID_discovery_cases
Individuals with 16q24.2-q24.3 deletions with patient data submitted to ClinVar
12
Majority of cases present with developmental delay (DD) and/or intellectual disability (ID)
Range, 14 mos.-48 yrs.
66.67% Male
2340000
9
0
9
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
3000000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
354927
0
1
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)
3000000
1
0
1
willemsen_10_ASD_discovery_cases
Male ASD patients (patient 2 was previously included in Marshall et al., 2008 Canadian autism cohort CNV study)
4
1 case diagnosed with borderline ASD, 3 cases diagnosed with ASD
Range, 3 yrs. 3 mo.-22 yrs.
100% male
2070000
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
0
0
0
0
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
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
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
novara_17_DD/ID_discovery_cases
N/A
aCGH
Agilent 180K, Agilent 60K, BlueGnome 0.5Mb Cytochip v3.1, Agilent 180K custom, Agilent 105K custom, Nimblegen 135K WG CGH 1.3, OGT 180K Cytosure ISCA v2 array, BACs aCGH
FISH, qPCR
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
willemsen_10_ASD_discovery_cases
aCGH
Agilent 105K, Agilent 244K oligo array
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_299919
N/A
F
Developmental delay/intellectual disability
88631330
89297194
665865
GRCh38
Deletion
Yes
handrigan_13_ASD/DD/ID_discovery_cases-patient22
14 yrs.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: velopharyngeal inadequacy. Growth parameters: not reported.
88599568
89473469
873902
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient23
17 yrs.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: facial dysmorphism. Growth parameters: not reported.
87223778
88662760
1438983
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient24
5 yrs.
F
ASD and MCA
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: mulitple congenital anomalies, facial dysmorphism. Growth parameters: not reported.
88047842
88876352
828511
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient25
0 mos.
F
Other
Neurodevelopmental abnormalities: none reported. Urological abnormalities: none reported. Other features: hyponatraemia, cleft lip and palate. Growth parameters: not reported.
88599768
89013029
413262
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient30
11 mos.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87581820
89500579
1918760
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_cases-patient31
17 mos.
F
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
87812552
89464721
1652170
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case19D1208
3 mos. 6 days
M
Developmental delay
87450585
89706342
2255758
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002632
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88159660
89506042
1346383
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004578
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
87853401
90081985
2228585
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004853
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
87306529
89269079
1962551
GRCh38
Deletion
Yes
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case14
8 yrs.
NA
Developmental delay
Poor weight gain, macrodontia, behavioral problems, delayed speech development
Learning problems
87921245
89417758
1496514
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown58
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP), CNV reported as 16q24.3 in original report
88609030
89012998
403969
GRCh38
Deletion
No
novara_17_DD/ID_discovery_cases-case1
8 yrs. 6 mos.
M
Intellectual disability and ADHD
Birth/neonatal history: born at 41+3 weeks gestation with normal auxological parameters; birth weight 3050 g, birth length 50 cm, OFC at birth 34.5 cm; Apgar scores 9/10. Developmental milestones: slightly delayed psychomotor development; language delay. Motor and musculoskeletal evaluation: brachytelephalangy with brachydactyly of the second ray of the right hand and of the second, third, and fifth rays of both feet; delayed bone age; bilateral prominent C7 transverse processes; proximally placed thumbs; flat feet. Behavioral/psychiatric evaluation: diagnosed with ADHD. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: N/A. Additional medical history: moderate-severe astigmatism; ventricular septal defect; unilateral cryptorchidism (left). Dysmorphic features: prominent forehead, thin hair in the temporal regions, synophrys with sparse eyebrows, prominent and posteriorly rotated ears, broad nose, high nasal bridge, anteverted nostrils with thickened alae of the wings, slight facial asymmetry, mild retrogenia, preferentially open mouth with trapezoidal morphology, full lips, downturned corners of the mouth, macrodontia, wide upper central incisors. Growth parameters: short stature; height < -2 SD, normal head circumference. Family history: second child of unrelated and health parents. Patient is present in ClinVar (SCV000328241).
Mild intellectual disability (IQ 72 at 6 years 11 months); learning disabilites
88577053
89545086
968034
GRCh38
Deletion
Yes
novara_17_DD/ID_discovery_cases-case12
48 yrs.
F
Intellectual disability
Birth/neonatal history: born at 40 weeks gestation after uncomplicated pregnancy. Developmental milestones: normal motor development; delayed cognitive development. Motor and musculoskeletal evaluation: cutaneous syndactyly of the II/III, III/IV, and IV/V fingers; hip dysplasia that was responsible for coxarthrosis (surgically corrected at 45 years). Behavioral/psychiatric evaluation: automutilation; shy behavior. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: no structual brain malformations reported. Additional medical history: high myopia; ptosis (left eye); hearing loss; psoriasis; alopecia areata (head); mild facialis paresis. Dysmorphic features: round face, low frontal hairline, broad nose, long philtrum, smooth philtrum, macrodontia, cupid-shaped mouth, downturned corners of the mouth. Growth parameters: height of 163.5 cm (-1 SD), weight of 65 kg (+1 SD), OFC of 56 cm (+1 SD). Family history: unremarkable family history. Patient is present in ClinVar (SCV000328252).
Intellectual disability (IQ of 65 at 32 years)
88599769
89406219
806451
GRCh38
Deletion
No
novara_17_DD/ID_discovery_cases-case2
26 yrs.
M
ASD and learning difficulties
Birth/neonatal history: born at 38 weeks gestation following normal pregnancy; birth weight ~2000 g (< -2 SD); feeding problems for first 6 months. Developmental milestones: delayed motor milestones. Motor and musculoskeletal evaluation: hypotonia (present from age of 1 year); short fingers; small feet. Behavioral/psychiatric evaluation: ASD; sleep difficulties. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: N/A. Additional medical history: ventricular septal defect; cerebral palsy. Dysmorphic features: prominent forehead, round face, deep set eyes, abnormality of primary dentition. Growth parameters: height < -1 SD, weight normal, head circumference > +1 SD, BMI 29.8 (overweight). Patient is present in DECIPHER (SMB255327) and ClinVar (SCV000328242)
Learning difficulties; verbal IQ of 67 and performance IQ of 62 at 22 years of age.
87306529
89269020
1962492
GRCh38
Deletion
No
novara_17_DD/ID_discovery_cases-case3
8 yrs. 9 mos.
M
Speech defect
Birth/neonatal history: born at 38 weeks gestation with normal biometric values after pregnancy complicated by polyhydramnios and minor cerebral ventriculomegaly; birth weight 3430 g, birth length 50 cm, OFC at birth 35 cm. Developmental milestones: walked alone at 18 months. Language and communication evaluation: speech defect. Motor and musculoskeletal evaluation: delayed bone age. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: moderate prenatal ventriculomegaly. Additional medical history: myopia; astigmatism; conductive hearing loss (otitis) that improved after tympanoplasty; complex inner and middle ear abnormalities; premature puberty (stage I according to the Tanner scale). Dysmorphic features: long palpebral fissures, pointed chin, macrodontia, teeth malposition, finger pads. Growth parameters: height -1 SD, weight < -2 SD, head circumference > +2 SD. Family history: third child of young and unrelated parents. Patient is present in DECIPHER (JFL255929) and ClinVar (SCV000328243).
Minor cognitive impairment
88197355
89297194
1099840
GRCh38
Deletion
Yes
novara_17_DD/ID_discovery_cases-case5
2 yrs.
M
Developmental delay
Birth/neonatal history: born at term from uncomplicated pregnancy; birth weight 4100 g; development of gastroesophageal reflux causing failure to thrive in first months of life, which resolved by 2 years of age. Developmental milestones: moderate developmental delay; speech delay; smiled at 8-9 weeks, sat independently at 8-9 months, walked independently at 18 months, spoke first recognizable words at 2 years 3 months. Motor and musculoskeletal evaluation: mild muscular hypotonia. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: N/A. Additional medical history: blepharitis; reduced cartilage in upper eyelids; moderate sensorineural hearing loss; undescended right testicle. Dysmorphic features: prominent forehead, round face, arched eyebrows, large ears, low set ears, broad nose, mild phagiocephaly. Growth parameters: macrocephaly; height < -1 SD, head circumference > +1 SD. Patient is present in DECIPHER (MCG251801) and ClinVar (SCV000328245).
Moderate developmental delay
88489783
89491503
1001721
GRCh38
Deletion
Yes
novara_17_DD/ID_discovery_cases-case6
14 mos.
M
Speech delay
Birth/neonatal history: born by emergency C-section due to fetal distress after 37 weeks gestation; perinatal asphyxia, cardiovascular and respiratory insufficiency, pulmonary hypertension, transient thrombocytopenia; bilateral adrenal hemorrhages resulted in adrenal insufficiency (hypocortisolism and mild hypothyroidism); neonatal trombopenia. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: short attention span. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: post asphyxia damage in absence of structual brain malformations. Additional medical history: astigmatism (requiring glasses); ventricular septal defect. Dysmorphic features: high forehead, frontal bossing, round face, low nasal bridge, deep nasal bridge, asymmetrically placed ears. Growth parameters: height 74.6 cm (normal), head circumference 45.5 cm (normal). Patient is present in ClinVar (SCV000328246).
Normal cognitive abilities
88132374
88847860
715487
GRCh38
Deletion
Yes
novara_17_DD/ID_discovery_cases-case7
13 yrs.
M
PDD-NOS and developmental coordination disorder
Birth/neonatal history: born after uneventful pregnancy and delivery; birth weight 3850 g. Motor and musculoskeletal evaluation: proximal implantation of thumbs; hyperlaxity; diagnosis of developmental coordination disorder; apraxia; stiffened gait with retraction of Achilles tendons. Behavioral/psychiatric evaluation: diagnosis of PDD-NOS. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: N/A. Dysmorphic features: KBG-like facial features; high forehead, prominent forehead, frontal bossing, round face, preauricular tag at right ear, low nasal bridge, pointed chin, macrodontia, large incisors. Growth parameters: short stature; height 156.7 cm (-1 SD), head circumference 55 cm (normal). Patient is present in ClinVar (SCV000328247).
Performance IQ 67, verbal IQ 81
88197154
89297334
1100181
GRCh38
Deletion
No
novara_17_DD/ID_discovery_cases-case8
29 yrs.
M
ASD and learning disabilities
Birth/neonatal history: born at term by emergency C-section due to breech presentation. Developmental milestones: slightly delayed developmental milestones; smiled at 2 months, sat up at 9 months, walked unaided at 17 months; severely impaired speech as a child (started speaking at 4 years), problem worsened by severe secretory otitis media requiring tympanostomy and grommets. Motor and musculoskeletal evaluation: levoconvex scoliosis; subdued tendon reflexes. Behavioral/psychiatric evaluation: ASD (diagnosed with autism); history of anxiety, angry outbursts, and impulsivity. Epilepsy/seizures: refractory epilepsy (onset, age of 15 years); seizures disappeared by age of 23 years. EEG: left temporal abnormalities; abnormal interictal activity with widespread slowing, on some occasions more evident over the right hemisphere, in video-telemetry EEG. Brain imaging: mega cisterna magna; biparietal parenchymal loss; cortical atrophy; slight atypical morphology of hippocampus (neuronal migration disorder). Additional medical history: bilateral ptosis; right exotropia; failure of convergence; undescended testes; thrombocytopenia; low platelet and eosinophil counts; low urea; low serum creatine; anosmia; slow and hypometric saccades; impaired upgaze with overactivity of frontalis. Dysmorphic features: forehead cleft, collapsed nasal bridge, high arched palate. Growth parameters: height normal, head circumference normal. Patient is present in ClinVar (SCV000328248).
Borderline intellectual disability (IQ of 74 at age of 20 years), learning disabilities
88564199
89541334
977136
GRCh38
Deletion
No
novara_17_DD/ID_discovery_cases-case9
3 yrs. 3 mos.
M
Developmental delay
Birth/neonatal history: born at 38 weeks gestation by C-section due to IUGR, ventricular septal defect, and fetal distress; birth weight 1940 g (below -2 SD), birth length 42 cm (below -2 SD), OFC at birth 32 cm (below -2 SD); Apgar scores 5/8; low platelet counts at age of 1 month. Developmental milestones: global developmental delay; mildly delayed psychomotor development. Motor and musculoskeletal evaluation: skeletal anomalies; increased susceptibility to fractures. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: delayed myelination. Additional medical history: mild bilateral eyelid ptosis; ventricular septal defect; thrombocytopenia; abnormality of the kidney. Dysmorphic features: broad philtrum, one cafe-au-lait spot on left leg. Growth parameters: height 85.3 cm (< -2 SD), weight 10.7 kg (< -2 SD), head circumference 49.7 cm (normal). Family history: third child of healthy and unrelated parents. Patient is present in ClinVar (SCV000328249).
Global developmental delay
87150055
89454395
2304341
GRCh38
Deletion
Yes
oikonomakis_16_ASD_discovery_cases-case119
5 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: frontal bossing, long eyelashes, large prominent ears, high arched palate, full cheeks, prominent lower lip, hypotonia, stereotypic movements
ID
87090551
90096706
3006156
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case12888
NA
NA
ASD
NA
NA
87083692
87438619
354927
Unknown
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case40
F
ASD
Coarse facial features, arched palate, seizures, speech delay, ASD
87090551
90096706
3006156
GRCh38
Deletion
No
willemsen_10_ASD_discovery_cases-patient3
6 yrs. 3 mo.
M
ASD
Height 5-12th percentile, head circumference 10th percentile; high forehead, frontal bossing, arched eyebrows, large ears, smooth philtrum, broad mouth, pointed chin, high plate; VSD, PFO, & cleft mitral valve with severe mitral regurgitation; corpus callosum hypoplasia, dialted ventricles, optic nerve hypoplasia; perventricular heterotopias (unilateral); partial complex seizures; high myopia, astigmatism, horizontal nystagmus; mixed neurosensorial & conductive hearing loss; unilateral cryptorchidism; thrombopenia, macrocytosis (resolved)
Moderate MR
87468893
89536091
2067199
GRCh38
Deletion
No
willemsen_10_ASD_discovery_cases-patient4
8 yrs. 10 mo.
M
ASD
Height 10-25th percentile, head circumference 50-75th percentile; high forehead, large ears; severe bilateral astigmatism
Borderline-normal verbal IQ, mildly impaired nonverbal IQ
88198893
89296091
1097199
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_299919
qPCR
De novo
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZC3H18,PIEZO1,ANKRD11,ACSF3
handrigan_13_ASD/DD/ID_discovery_cases-patient22
Maternal
Unknown
Unknown
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZC3H18,PIEZO1,ANKRD11,ACSF3
handrigan_13_ASD/DD/ID_discovery_cases-patient23
Unknown
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18
handrigan_13_ASD/DD/ID_discovery_cases-patient24
Unknown
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,BANP,ZFPM1,ZC3H18,PIEZO1
handrigan_13_ASD/DD/ID_discovery_cases-patient25
De novo
Unknown
Unknown
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,ZC3H18,PIEZO1
handrigan_13_ASD/DD/ID_discovery_cases-patient30
Unknown
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,ACSF3
handrigan_13_ASD/DD/ID_discovery_cases-patient31
Unknown
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,ACSF3
han_22_ASD/DD/ID_discovery_cases-case19D1208
Unknown
APRT,CA5A,CBFA2T3,CDH15,DPEP1,CYBA,CPNE7,IL17C,TRAPPC2L,ANKRD11,KLHDC4,BANP,JPH3,CDT1,ZNF469,RNF166,SPATA33,ZC3H18,SPATA2L,SLC22A31,ACSF3,ZNF778,SNAI3-AS1,ZFPM1,GALNS,LINC00304,SNAI3,CTU2,PABPN1L,LINC02138,SNORD68,ZFPM1-AS1,MVD,MIR4722,MIR5189,RPL13,CHMP1A,LINC02182,ZCCHC14-DT,MIR6775,LINC02166,SPG7,RNU6-430P,CDK10,SLC7A5,PIEZO1,ZCCHC14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002632
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,ACSF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004578
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,RPL13,SNORD68,SPATA2L,VPS9D1-AS1,CENPBD1,GAS8-AS1,SLC7A5,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,CPNE7,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,CHMP1A,FANCA,MC1R,URAHP,ACSF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004853
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,ACSF3
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case14
Unknown
APRT,CA5A,CBFA2T3,CDH15,CYBA,IL17C,TRAPPC2L,ANKRD11,BANP,CDT1,ZNF469,RNF166,ZC3H18,SLC22A31,ACSF3,ZNF778,SNAI3-AS1,ZFPM1,GALNS,LINC00304,SNAI3,CTU2,PABPN1L,LINC02138,ZFPM1-AS1,MVD,MIR4722,MIR5189,LINC02182,PIEZO1
maini_18_ASD/DD/ID_discovery_cases-case_unknown58
De novo
Unknown
Unknown
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,ZC3H18,PIEZO1
novara_17_DD/ID_discovery_cases-case1
FISH
De novo
Segregated
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZC3H18,PIEZO1,ANKRD11,SPG7,ACSF3
novara_17_DD/ID_discovery_cases-case12
Unknown
Simplex
Unknown
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZC3H18,PIEZO1,ANKRD11,ACSF3
novara_17_DD/ID_discovery_cases-case2
De novo
Segregated
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,ACSF3
novara_17_DD/ID_discovery_cases-case3
qPCR
De novo
Segregated
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZFPM1,ZC3H18,PIEZO1,ANKRD11,ACSF3
novara_17_DD/ID_discovery_cases-case5
FISH
De novo
Segregated
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,ACSF3
novara_17_DD/ID_discovery_cases-case6
FISH
De novo
Segregated
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,ZFPM1,ZC3H18,PIEZO1
novara_17_DD/ID_discovery_cases-case7
De novo
Segregated
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZFPM1,ZC3H18,PIEZO1,ANKRD11,ACSF3
novara_17_DD/ID_discovery_cases-case8
De novo
Segregated
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZC3H18,PIEZO1,ANKRD11,SPG7,ACSF3
novara_17_DD/ID_discovery_cases-case9
FISH
De novo
Segregated
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,ACSF3
oikonomakis_16_ASD_discovery_cases-case119
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,RPL13,SNORD68,SPATA2L,VPS9D1-AS1,CENPBD1,GAS8-AS1,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,CPNE7,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,TUBB8P7,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,CHMP1A,FANCA,MC1R,URAHP,ACSF3
rosenfeld_10_ASD_discovery_cases-case12888
FISH
Maternal
Unknown
Unknown
ZFPM1,ZC3H18,IL17C,CYBA,MVD,SNAI3,RNF166,CTU2,PIEZO1,CDT1,APRT,GALNS
tzetis_12_DD/ID_discovery_cases-case40
Unknown
Unknown
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,RPL13,SNORD68,SPATA2L,VPS9D1-AS1,CENPBD1,GAS8-AS1,FBXO31,MAP1LC3B,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,CPNE7,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,TUBB8P7,C16orf95,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,CHMP1A,FANCA,MC1R,URAHP,ACSF3
willemsen_10_ASD_discovery_cases-patient3
Unknown (possible de novo)
NA
NA
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,KLHDC4,SLC7A5,MIR6775,CA5A,LINC02182,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZCCHC14,JPH3,BANP,ZFPM1,ZC3H18,PIEZO1,ANKRD11,SPG7,ACSF3
willemsen_10_ASD_discovery_cases-patient4
Unknown (possible de novo)
NA
NA
ZNF469,MIR5189,IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ZFPM1,ZC3H18,PIEZO1,ANKRD11,ACSF3
Controls
No Control Data Available
No Animal Model Data Available