ICE1

gene
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Summary

ICE1 (interactor of little elongation complex ELL subunit 1, HGNC:29154) is a protein-coding gene on chromosome 5p15.32, encoding Little elongation complex subunit 1 (Q9Y2F5). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. It is a selective cancer dependency (DepMap: 82.9% of cell lines).

Enables protein-macromolecule adaptor activity. Involved in several processes, including positive regulation of intracellular protein transport; positive regulation of transcription by RNA polymerase III; and snRNA transcription. Located in Cajal body; euchromatin; and histone locus body. Part of transcription elongation factor complex.

Source: NCBI Gene 23379 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): intellectual disability (Moderate, GenCC)
  • GWAS associations: 5
  • Clinical variants (ClinVar): 374 total
  • Cancer dependency (DepMap): dependent in 82.9% of screened cell lines
  • MANE Select transcript: NM_015325

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29154
Approved symbolICE1
Nameinteractor of little elongation complex ELL subunit 1
Location5p15.32
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000164151
Ensembl biotypeprotein_coding
OMIM617958
Entrez23379

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000296564, ENST00000505464, ENST00000512608

RefSeq mRNA: 1 — MANE Select: NM_015325 NM_015325

CCDS: CCDS47187

Canonical transcript exons

ENST00000296564 — 19 exons

ExonStartEnd
ENSE0000108188954867215486819
ENSE0000116910354759735476079
ENSE0000116911454735585473748
ENSE0000116912054688285468988
ENSE0000116912654663345466502
ENSE0000122527554891495490220
ENSE0000122528354604365465226
ENSE0000149268954573325457741
ENSE0000149269054545525454638
ENSE0000149270654226775422999
ENSE0000347085454398955439913
ENSE0000347853354370805437114
ENSE0000357469654411125441223
ENSE0000359216454364185436476
ENSE0000375493954431685443244
ENSE0000375664254477215447760
ENSE0000375762654442895444326
ENSE0000375830254478415447897
ENSE0000376033154474275447509

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 95.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9103 / max 129.3115, expressed in 1804 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
5562320.62421804
556240.269192
2034780.01262
556250.00431

Top tissues by expression

298 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548895.74gold quality
buccal mucosa cellCL:000233694.86gold quality
secondary oocyteCL:000065592.69gold quality
calcaneal tendonUBERON:000370192.17gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450292.16gold quality
parietal pleuraUBERON:000240092.09gold quality
Brodmann (1909) area 23UBERON:001355491.90gold quality
pleuraUBERON:000097791.89gold quality
tendon of biceps brachiiUBERON:000818891.84gold quality
visceral pleuraUBERON:000240191.77gold quality
biceps brachiiUBERON:000150791.62gold quality
middle temporal gyrusUBERON:000277191.57gold quality
blood vessel layerUBERON:000479791.55gold quality
cerebellar vermisUBERON:000472091.40gold quality
tendonUBERON:000004391.35gold quality
skin of hipUBERON:000155491.15gold quality
superficial temporal arteryUBERON:000161491.09gold quality
germinal epithelium of ovaryUBERON:000130491.00gold quality
endothelial cellCL:000011590.60gold quality
oocyteCL:000002390.53gold quality
seminal vesicleUBERON:000099890.17gold quality
vastus lateralisUBERON:000137989.98gold quality
renal medullaUBERON:000036289.94gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451189.80gold quality
cauda epididymisUBERON:000436089.64gold quality
CA1 field of hippocampusUBERON:000388189.57gold quality
jejunumUBERON:000211589.54gold quality
urethraUBERON:000005789.53gold quality
endometrium epitheliumUBERON:000481189.52gold quality
heart right ventricleUBERON:000208089.51gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes5.00

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 82.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

  • Multigenerational autosomal dominant inheritance of 5p chromosomal deletions resulting in Cri-du-Chat Syndrome with SEMA5A, CTNND2, and ICE1 deficiencies has been described. (PMID:26601658)
  • The results indicate that p53 interferes with the interaction between ELL/EAF and ICE1 and represses transcription of small nuclear RNA genes by Pol II. (PMID:27268141)
  • RNAseq studies reveal that depletion of ICE1 globally enhances accumulation and stability of NMD-target mRNAs. Further, our data suggest that ICE1 uses a putative MIF4G domain to interact with exon junction complex (EJC) proteins and promotes the association of the NMD protein UPF3B with the EJC. (PMID:29528287)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioice1ENSDARG00000058461
mus_musculusIce1ENSMUSG00000034525
rattus_norvegicusIce1ENSRNOG00000023053
drosophila_melanogasterPaf-AHalphaFBGN0025809

Paralogs (2): PAFAH1B3 (ENSG00000079462), PAFAH1B2 (ENSG00000168092)

Protein

Protein identifiers

Little elongation complex subunit 1Q9Y2F5 (reviewed: Q9Y2F5)

Alternative names: Interactor of little elongator complex ELL subunit 1

All UniProt accessions (2): A0A096LPH9, Q9Y2F5

UniProt curated annotations — full annotation on UniProt →

Function. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies.

Subunit / interactions. Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts (via N-terminus domain) with ELL. Interacts (via C-terminus domain) with ICE2 and ZC3H8.

Subcellular location. Nucleus. Cajal body.

Domain organisation. The N-termimus domain is necessary and sufficient for its targeting to subnuclear cajal and histone locus bodies.

Similarity. Belongs to the ICE1 family.

RefSeq proteins (1): NP_056140* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR057881ICE1_CDomain

Pfam: PF25817

UniProt features (58 total): modified residue 20, compositionally biased region 13, region of interest 10, sequence variant 7, sequence conflict 6, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y2F5-F145.160.07

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (20): 255, 533, 558, 589, 707, 832, 925, 958, 1218, 1588, 1617, 1642, 1692, 1697, 1699, 1701, 1712, 1838, 1854, 1903

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-6807505RNA polymerase II transcribes snRNA genes

MSigDB gene sets: 175 (showing top): MORF_SMC1L1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, MORF_HDAC2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, MORF_BUB3, MORF_RFC4, GOBP_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GARY_CD5_TARGETS_DN

GO Biological Process (5): positive regulation of protein-containing complex assembly (GO:0031334), snRNA transcription by RNA polymerase II (GO:0042795), snRNA transcription by RNA polymerase III (GO:0042796), positive regulation of transcription by RNA polymerase III (GO:0045945), positive regulation of intracellular protein transport (GO:0090316)

GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (7): euchromatin (GO:0000791), nucleoplasm (GO:0005654), transcription elongation factor complex (GO:0008023), Cajal body (GO:0015030), nuclear body (GO:0016604), histone locus body (GO:0035363), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
RNA Polymerase II Transcription1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
snRNA transcription2
transcription by RNA polymerase III2
nucleoplasm2
nuclear ribonucleoprotein granule2
regulation of protein-containing complex assembly1
positive regulation of cellular component biogenesis1
positive regulation of cellular component organization1
protein-containing complex assembly1
transcription by RNA polymerase II1
regulation of transcription by RNA polymerase III1
positive regulation of DNA-templated transcription1
intracellular protein transport1
positive regulation of intracellular transport1
regulation of intracellular protein transport1
positive regulation of protein transport1
protein binding1
molecular adaptor activity1
binding1
chromatin1
nuclear lumen1
cellular anatomical structure1
nuclear protein-containing complex1
intracellular membraneless organelle1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

770 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ICE1ICE2Q659A1985
ICE1ZC3H8Q8N5P1878
ICE1ELLP55199731
ICE1ZNF346Q9UL40667
ICE1FRZBQ92765645
ICE1AZIN2Q96A70549
ICE1EEF1AKMT4-ECE2P0DPD8505
ICE1NBASA2RRP1498
ICE1DHX34Q14147481
ICE1ECE2P0DPD6478
ICE1SRSF1Q07955468
ICE1CEBPZQ03701434
ICE1CASP2P42575414
ICE1RPN1P04843407
ICE1BTBD19C9JJ37397

IntAct

55 interactions, top by confidence:

ABTypeScore
EAF1ELL2psi-mi:“MI:0914”(association)0.840
ELL3ICE2psi-mi:“MI:0914”(association)0.730
ELL3CCNT1psi-mi:“MI:0914”(association)0.640
SNRPA1HTATSF1psi-mi:“MI:0914”(association)0.640
SNRPA1U2SURPpsi-mi:“MI:0914”(association)0.640
ICE1ELLpsi-mi:“MI:0915”(physical association)0.620
ELLICE2psi-mi:“MI:0914”(association)0.620
ICE2ELLpsi-mi:“MI:0914”(association)0.620
ICE1ELLpsi-mi:“MI:0914”(association)0.620
DYRK1BBMAL1psi-mi:“MI:0914”(association)0.530
CDC7ICE1psi-mi:“MI:0915”(physical association)0.400
ICE1BTRCpsi-mi:“MI:0915”(physical association)0.370
AIMP2ICE1psi-mi:“MI:0915”(physical association)0.370
OFD1CCDC14psi-mi:“MI:0914”(association)0.350
Kif20bSHTN1psi-mi:“MI:0914”(association)0.350
PRMT7SSR3psi-mi:“MI:0914”(association)0.350
CBX8CMSS1psi-mi:“MI:0914”(association)0.350
ECPASpsi-mi:“MI:0914”(association)0.350
FGFR1OP2STK24psi-mi:“MI:0914”(association)0.350
NCBP2TARS3psi-mi:“MI:0914”(association)0.350
ESR1ESYT2psi-mi:“MI:0914”(association)0.350

BioGRID (77): COIL (Co-localization), USPL1 (Co-localization), ICE1 (Co-localization), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Biochemical Activity), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS), ICE1 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1

Diamond homologs: E9Q286, Q9Y2F5

SIGNOR signaling

1 interactions.

AEffectBMechanism
ICE1“form complex”ELL/ICE1binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
RNA polymerase II transcribes snRNA genes625.0×3e-05
mRNA Polyadenylation614.2×3e-04
mRNA Splicing - Major Pathway811.8×3e-05
Processing of Capped Intron-Containing Pre-mRNA511.1×3e-03
Dengue Virus-Host Interactions78.6×8e-04

GO biological processes:

GO termPartnersFoldFDR
positive regulation of transcription elongation by RNA polymerase II636.9×3e-06
mRNA splicing, via spliceosome611.2×9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

374 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance299
Likely benign35
Benign6

Top pathogenic / likely-pathogenic (0)

SpliceAI

3481 predictions. Top by Δscore:

VariantEffectΔscore
5:5435147:G:GTdonor_gain1.0000
5:5436412:TTTCA:Tacceptor_loss1.0000
5:5436413:TTCAG:Tacceptor_loss1.0000
5:5436414:TCA:Tacceptor_loss1.0000
5:5436415:CAGAA:Cacceptor_loss1.0000
5:5436416:A:ACacceptor_loss1.0000
5:5436416:A:AGacceptor_gain1.0000
5:5436417:G:GGacceptor_gain1.0000
5:5436417:GA:Gacceptor_gain1.0000
5:5436417:GAA:Gacceptor_gain1.0000
5:5436475:GA:Gdonor_gain1.0000
5:5436477:G:GGdonor_gain1.0000
5:5437139:T:Gdonor_gain1.0000
5:5441110:A:AGacceptor_gain1.0000
5:5441111:G:GGacceptor_gain1.0000
5:5441111:GA:Gacceptor_gain1.0000
5:5441111:GAGA:Gacceptor_gain1.0000
5:5441222:AGG:Adonor_loss1.0000
5:5441224:GTATG:Gdonor_loss1.0000
5:5441225:T:Adonor_loss1.0000
5:5443164:A:AGacceptor_gain1.0000
5:5443165:A:Gacceptor_gain1.0000
5:5443166:A:ACacceptor_loss1.0000
5:5443166:A:AGacceptor_gain1.0000
5:5443167:G:GGacceptor_gain1.0000
5:5443167:GA:Gacceptor_gain1.0000
5:5443167:GAGT:Gacceptor_gain1.0000
5:5443167:GAGTT:Gacceptor_gain1.0000
5:5443240:GCTCA:Gdonor_gain1.0000
5:5443241:CTCA:Cdonor_gain1.0000

AlphaMissense

14880 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:5436455:A:TK41I1.000
5:5436456:A:CK41N0.999
5:5436456:A:TK41N0.999
5:5437088:T:CL51S0.999
5:5439898:T:CL61P0.999
5:5473720:T:AW2129R0.999
5:5473720:T:CW2129R0.999
5:5475983:T:AW2142R0.999
5:5475983:T:CW2142R0.999
5:5476001:T:AW2148R0.999
5:5476001:T:CW2148R0.999
5:5436452:T:CL40S0.998
5:5436454:A:GK41E0.998
5:5436458:A:CQ42P0.998
5:5436464:T:CI44T0.998
5:5437096:T:GY54D0.998
5:5441210:T:CL99P0.998
5:5444321:T:CL140P0.998
5:5466446:G:CR2002P0.998
5:5468872:T:AW2036R0.998
5:5468872:T:CW2036R0.998
5:5475981:T:CL2141P0.998
5:5476068:T:CL2170P0.998
5:5476074:T:CL2172P0.998
5:5489241:T:AW2238R0.998
5:5489241:T:CW2238R0.998
5:5436422:T:CL30S0.997
5:5436430:T:CY33H0.997
5:5436439:G:CA36P0.997
5:5436443:T:CL37S0.997

dbSNP variants (sampled 300 via entrez): RS1000015553 (5:5455691 C>A,G), RS1000027696 (5:5476854 C>A), RS1000075257 (5:5462849 C>T), RS1000173559 (5:5479278 G>T), RS1000180632 (5:5468487 A>G), RS1000187957 (5:5478348 C>T), RS1000200564 (5:5427657 T>C), RS1000349508 (5:5426483 A>G), RS1000380780 (5:5450513 G>A), RS1000405196 (5:5475089 C>T), RS1000409205 (5:5444588 A>G), RS1000457630 (5:5421635 G>A), RS1000493303 (5:5485511 C>G,T), RS1000558903 (5:5421906 A>G), RS1000613162 (5:5427399 A>C,G)

Disease associations

OMIM: gene MIM:617958 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
intellectual disabilityModerateAutosomal recessive

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

StudyTraitp-value
GCST001996_1Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)4.000000e-06
GCST002337_148Amyotrophic lateral sclerosis (sporadic)1.000000e-06
GCST009391_1378Metabolite levels9.000000e-06
GCST009391_898Metabolite levels4.000000e-06
GCST90000025_297Appendicular lean mass2.000000e-12

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0010367lysophosphatidylethanolamine 18:0 measurement
EFO:0010441triacylglycerol 58:7 measurement
EFO:0004980appendicular lean mass

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

ChemicalActions (top 5)PubMed papers
Aflatoxin B1increases methylation2
aristolochic acid Idecreases expression1
FR900359affects phosphorylation1
triphenyl phosphateaffects expression1
bisphenol Adecreases methylation1
potassium chromate(VI)increases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, decreases expression1
coumarinaffects phosphorylation1
tamibaroteneaffects expression1
Resveratrolincreases expression, affects cotreatment1
Sunitinibincreases expression1
Acetaminophendecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicaffects methylation1
Benzo(a)pyreneaffects methylation1
Caffeineincreases phosphorylation1
Cisplatindecreases expression1
Coumestrolaffects cotreatment, decreases expression1
Leadaffects methylation1
Plant Extractsaffects cotreatment, increases expression1
Quercetindecreases phosphorylation1
Ribonucleotidesaffects binding1
Tetrachlorodibenzodioxindecreases expression1
Tretinoindecreases expression1
Valproic Aciddecreases methylation1
Cyclosporineincreases expression1
Cadmium Chloridedecreases expression1
Particulate Matterincreases abundance, decreases expression1

Clinical trials (associated diseases)

197 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736PHASE3COMPLETEDClinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320PHASE1COMPLETEDClinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361PHASE1ENROLLING_BY_INVITATIONSensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764PHASE1COMPLETEDUse of MRI and cTBS for Catatonia in Autism
NCT06586827PHASE1COMPLETEDImpact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940PHASE1NOT_YET_RECRUITINGEscalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476PHASE2/PHASE3COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796PHASE1/PHASE2COMPLETEDEffects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672EARLY_PHASE1RECRUITINGClinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948Not specifiedCOMPLETEDHealthy Lifestyles for People With Intellectual Disabilities
NCT01087320Not specifiedRECRUITINGGenome Medical Sequencing for Gene Discovery
NCT01652963Not specifiedUNKNOWNPicture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395Not specifiedCOMPLETEDMental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554Not specifiedCOMPLETEDResearch and Characterization of New Genes Involved in Intellectual Disability
NCT01915381Not specifiedCOMPLETEDImproving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623Not specifiedCOMPLETEDPivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773Not specifiedCOMPLETEDSupport Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849Not specifiedCOMPLETEDInter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041Not specifiedCOMPLETEDSedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438Not specifiedCOMPLETEDEstablishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761Not specifiedCOMPLETEDApparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420Not specifiedACTIVE_NOT_RECRUITINGMapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459Not specifiedACTIVE_NOT_RECRUITINGAutism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081Not specifiedCOMPLETEDDevelopment and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502Not specifiedCOMPLETEDEnhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277Not specifiedCOMPLETEDDiabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754Not specifiedCOMPLETEDWeight Management for Adolescents With IDD
NCT02591446Not specifiedCOMPLETEDTranscranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868Not specifiedCOMPLETEDEvaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394Not specifiedUNKNOWNFCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614Not specifiedCOMPLETEDPsychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405Not specifiedCOMPLETEDTMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders