TREX2

Summary

TREX2 (three prime repair exonuclease 2, HGNC:12270) is a protein-coding gene on chromosome Xq28, encoding Three prime repair exonuclease 2 (Q9BQ50). Exonuclease with a preference for double-stranded DNA with mismatched 3’ termini.

This gene encodes a nuclear protein with 3’ to 5’ exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta.

Source: NCBI Gene 11219 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_080701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12270
Approved symbol	TREX2
Name	three prime repair exonuclease 2
Location	Xq28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183479
Ensembl biotype	protein_coding
OMIM	300370
Entrez	11219

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000330912, ENST00000334497, ENST00000338525, ENST00000370231, ENST00000370232, ENST00000393862

RefSeq mRNA: 1 — MANE Select: NM_080701 NM_080701

CCDS: CCDS35437

Canonical transcript exons

ENST00000370231 — 2 exons

Exon	Start	End
ENSE00001516755	153446009	153446056
ENSE00003794896	153444473	153445495

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 85.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0519 / max 16.4452, expressed in 16 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200869	8.3708	1720
200868	0.0519	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	85.50	gold quality
skin of leg	UBERON:0001511	85.13	gold quality
ascending aorta	UBERON:0001496	80.28	gold quality
thoracic aorta	UBERON:0001515	80.12	gold quality
descending thoracic aorta	UBERON:0002345	79.56	gold quality
zone of skin	UBERON:0000014	79.34	gold quality
lower esophagus mucosa	UBERON:0035834	79.07	gold quality
right coronary artery	UBERON:0001625	77.89	gold quality
aorta	UBERON:0000947	77.23	gold quality
popliteal artery	UBERON:0002250	75.43	gold quality
tibial artery	UBERON:0007610	75.43	gold quality
granulocyte	CL:0000094	75.15	gold quality
left coronary artery	UBERON:0001626	73.80	gold quality
coronary artery	UBERON:0001621	72.31	gold quality
ectocervix	UBERON:0012249	71.59	gold quality
spleen	UBERON:0002106	67.66	gold quality
esophagus mucosa	UBERON:0002469	67.18	gold quality
endocervix	UBERON:0000458	66.56	gold quality
metanephros cortex	UBERON:0010533	66.17	gold quality
vagina	UBERON:0000996	65.52	gold quality
left uterine tube	UBERON:0001303	64.81	gold quality
minor salivary gland	UBERON:0001830	64.39	gold quality
body of uterus	UBERON:0009853	64.15	gold quality
left lobe of thyroid gland	UBERON:0001120	63.39	gold quality
esophagus	UBERON:0001043	63.34	gold quality
apex of heart	UBERON:0002098	62.78	gold quality
blood	UBERON:0000178	62.50	gold quality
mucosa of transverse colon	UBERON:0004991	62.38	gold quality
mouth mucosa	UBERON:0003729	61.88	gold quality
right lobe of thyroid gland	UBERON:0001119	61.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.95

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYCN

Literature-anchored findings (GeneRIF, showing 15)

• Polymorphisms exist in prostatic cancer patients. (PMID:15581481)
• analysis of human TREX2 3’ -> 5’-exonuclease structure and description of the mechanism for efficient nonprocessive DNA catalysis (PMID:15661738)
• Results suggest that TREX2 plays an important function during DNA metabolism and cellular proliferation. (PMID:17426129)
• analysis of cooperative DNA binding and communication across the dimer interface in the TREX2 3’ –> 5’-exonuclease (PMID:18534978)
• Trex2 deletion caused high levels of Robertsonian translocations (RbTs) showing Trex2 is important for chromosomal maintenance. (PMID:19094998)
• a model for DNA binding and 3’ hydrolysis for the TREX2 dimer. (PMID:19321497)
• Trex2 does not enable DSB repair and prompt a new model that posits Trex2 suppresses the formation of broken chromosomes. (PMID:21546543)
• TREX-2 is an NPC-associated complex in mammalian cells. (PMID:23591820)
• human TREX-2 complex prevents genome instability, as determined by the accumulation of gamma-H2AX and 53BP1 foci and single-cell electrophoresis in cells depleted of the TREX-2 subunits PCID2, GANP and DSS1 (PMID:24896180)
• Altogether, data provide new insights in the molecular mechanisms of TREX2 activity and establish cell autonomous and non-cell autonomous functions of TREX2 in the UVB-induced skin response. (PMID:26090614)
• the scaffold subunit of TREX-2, GANP, positively regulates DNA repair through homologous recombination (HR). In contrast, DUBm adaptor subunits ENY2 and ATXNL3 are required to limit unscheduled HR. (PMID:30054449)
• Significant methylation loss at an intragenic site of TREX2 was a frequent trait in a cohort of patients with laryngeal cancer. Methylation loss correlated with increased expression of TREX2 in laryngeal tumors and improved overall survival. These data highlight a regulatory role of TREX2 DNA methylation for gene expression which might affect incidence and survival of laryngeal cancer. (PMID:31053176)
• Nucleoporin TPR is an integral component of the TREX-2 mRNA export pathway. (PMID:32917881)
• TREX2 Exonuclease Causes Spontaneous Mutations and Stress-Induced Replication Fork Defects in Cells Expressing RAD51(K133A). (PMID:33357432)
• The Human TREX-2 Complex Interacts with Subunits of the ORC Complex. (PMID:38066323)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	plex9.1	ENSDARG00000092584
danio_rerio	plex9.2	ENSDARG00000093773
mus_musculus	Trex2	ENSMUSG00000031372
rattus_norvegicus	Trex2	ENSRNOG00000056983
drosophila_melanogaster	CG3165	FBGN0031484
caenorhabditis_elegans		WBGENE00020949

Paralogs (1): TREX1 (ENSG00000213689)

Protein

Protein identifiers

Three prime repair exonuclease 2 — Q9BQ50 (reviewed: Q9BQ50)

Alternative names: 3’-5’ exonuclease TREX2

All UniProt accessions (1): Q9BQ50

UniProt curated annotations — full annotation on UniProt →

Function. Exonuclease with a preference for double-stranded DNA with mismatched 3’ termini. May play a role in DNA repair.

Subunit / interactions. Homodimer.

Subcellular location. Nucleus.

Tissue specificity. Detected in heart, breast, prostate, skeletal muscle, testis, uterus, bone marrow, colon, small intestine, stomach and thymus.

Cofactor. Binds 2 Mg(2+) per subunit. The second magnesium ion interacts with only one residue. Substitution with Mn(2+) results in partial activity.

Miscellaneous. Only supported by readthrough transcripts formed via the splicing of exons from UCHL5IP and TREX2 genes.

Similarity. Belongs to the exonuclease superfamily. TREX family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BQ50-2	2	yes
Q9BQ50-1	1

RefSeq proteins (1): NP_542432* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012337	RNaseH-like_sf	Homologous_superfamily
IPR013520	Ribonucl_H	Domain
IPR036397	RNaseH_sf	Homologous_superfamily
IPR040393	TREX1/2	Family

UniProt features (36 total): helix 11, mutagenesis site 8, binding site 7, strand 5, chain 1, active site 1, sequence variant 1, turn 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1Y97	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQ50-F1	93.30	0.88

Functional residue map

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

Catalytic / active sites (1): 188 (proton donor/acceptor)

Ligand- & substrate-binding residues (7): 14; 14; 16–17; 16; 122; 193; 193

Mutagenesis-validated functional residues (8):

Position	Phenotype
14	loss of enzyme activity; when associated with a-16. almost abolishes enzyme activity.
16	loss of enzyme activity; when associated with a-14. almost abolishes enzyme activity.
123	almost abolishes enzyme activity.
163	strongly reduces dna-binding; when associated with a-165 and a-167.
165	strongly reduces dna-binding; when associated with a-163 and a-167.
167	strongly reduces dna-binding; when associated with a-165 and a-165.
188	loss of enzyme activity; when associated with a-193. almost abolishes enzyme activity.
193	loss of enzyme activity; when associated with a-188. almost abolishes enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 107 (showing top): E2F_Q4, MORF_DNMT1, CCAWYNNGAAR_UNKNOWN, GOMF_NUCLEASE_ACTIVITY, GCANCTGNY_MYOD_Q6, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORF_HDAC2, KAUFFMANN_DNA_REPAIR_GENES, GGGTGGRR_PAX4_03, GOBP_DNA_CATABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, IRF7_01, E2F_Q3, NF1_Q6_01

GO Biological Process (4): DNA metabolic process (GO:0006259), DNA repair (GO:0006281), DNA catabolic process (GO:0006308), DNA damage response (GO:0006974)

GO Molecular Function (13): magnesium ion binding (GO:0000287), DNA binding (GO:0003677), 3’-5’-DNA exonuclease activity (GO:0008296), double-stranded DNA 3’-5’ DNA exonuclease activity (GO:0008311), protein homodimerization activity (GO:0042803), molecular adaptor activity (GO:0060090), nucleic acid binding (GO:0003676), nuclease activity (GO:0004518), exonuclease activity (GO:0004527), protein binding (GO:0005515), 3’-5’ exonuclease activity (GO:0008408), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
DNA metabolic process	2
nucleic acid metabolic process	1
DNA damage response	1
DNA nuclease activity	1
nucleic acid catabolic process	1
cellular response to stress	1
metal ion binding	1
nucleic acid binding	1
3’-5’ exonuclease activity	1
DNA exonuclease activity, producing 5’-phosphomonoesters	1
3’-5’-DNA exonuclease activity	1
double-stranded DNA exodeoxyribonuclease activity	1
identical protein binding	1
protein dimerization activity	1
molecular_function	1
catalytic activity, acting on a nucleic acid	1
nuclease activity	1
hydrolase activity, acting on ester bonds	1
exonuclease activity	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TREX2	HAUS7	Q99871	434
TREX2	DNASE1L2	Q92874	394
TREX2	ZNF26	P17031	369
TREX2	SEM1	Q6ZVN7	369
TREX2	ENY2	Q9NPA8	354
TREX2	PCID2	Q5JVF3	350
TREX2	LIG3	P49916	341
TREX2	MRE11	P49959	330
TREX2	EXOSC10	Q01780	327
TREX2	LIG4	P49917	309
TREX2	DEDD	O75618	308
TREX2	ATXN7L3	Q14CW9	305
TREX2	AHCY	P23526	302
TREX2	YARS1	P54577	302
TREX2	MCM3AP	O60318	276

IntAct

36 interactions, top by confidence:

A	B	Type	Score
MESD	TREX2	psi-mi:“MI:0915”(physical association)	0.560
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
SSBP2	CLEC18A	psi-mi:“MI:0914”(association)	0.530
KLHL11	PIPSL	psi-mi:“MI:0914”(association)	0.350
PARD3B	PGP	psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
GOT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
HCN1	A2ML1	psi-mi:“MI:0914”(association)	0.350
TREX2	A2ML1	psi-mi:“MI:0914”(association)	0.350
FCF1	SULT2B1	psi-mi:“MI:0914”(association)	0.350
CCNYL1	PPL	psi-mi:“MI:0914”(association)	0.350
LIAS	CTSV	psi-mi:“MI:0914”(association)	0.350
SELENON	ACTL6B	psi-mi:“MI:0914”(association)	0.350
FMNL3	UBXN7	psi-mi:“MI:0914”(association)	0.350
DOCK3	HS6ST3	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
CERS3	IGLC7	psi-mi:“MI:0914”(association)	0.350
PIGT	A2ML1	psi-mi:“MI:0914”(association)	0.350
MMTAG2	A2ML1	psi-mi:“MI:0914”(association)	0.350
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PHF11	A2ML1	psi-mi:“MI:0914”(association)	0.350
SLC25A6	A2ML1	psi-mi:“MI:0914”(association)	0.350
MBNL1	A2ML1	psi-mi:“MI:0914”(association)	0.350
ZC3HC1	SULT2B1	psi-mi:“MI:0914”(association)	0.350
BPHL	SULT2B1	psi-mi:“MI:0914”(association)	0.350
DPPA4	GAPDHS	psi-mi:“MI:0914”(association)	0.350

BioGRID (61): TREX2 (Affinity Capture-MS), TREX2 (Two-hybrid), TREX2 (Synthetic Growth Defect), TREX2 (Affinity Capture-MS), TREX2 (Affinity Capture-MS), TREX2 (Affinity Capture-MS), TREX2 (Affinity Capture-MS), TREX2 (Affinity Capture-MS), TREX2 (Affinity Capture-MS), TREX2 (Two-hybrid), TREX2 (Affinity Capture-MS), TREX2 (Co-fractionation), TREX2 (Affinity Capture-MS), UBE2N (Reconstituted Complex), CAPG (Affinity Capture-MS)

ESM2 similar proteins: A0A2K3DU55, A1VFG1, A1WYA9, A2BIR6, A2YQ58, A4D2B0, A5GW48, A8MPS7, B2S2Q3, B6TN12, B7VBN1, B8DP49, B8DPP9, C5XKZ1, E2RDZ6, O83327, P18080, P28855, P84172, Q06AU9, Q08DH8, Q0D3F2, Q10MI9, Q14BV6, Q1HG60, Q2KIF8, Q30Y50, Q3AMW4, Q3U6U5, Q499X9, Q5E9L5, Q5GA22, Q5NAI7, Q6DJC2, Q6NZB1, Q72DW3, Q74ZW4, Q750J3, Q75AT3, Q7U9G2

Diamond homologs: Q91XB0, Q9BG99, Q9BQ50, Q9NSU2, Q9R1A9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	12
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2054 predictions. Top by Δscore:

Variant	Effect	Δscore
X:153454389:CGTA:C	donor_loss	1.0000
X:153454390:GTACC:G	donor_loss	1.0000
X:153454391:TACCT:T	donor_loss	1.0000
X:153454392:A:AC	donor_gain	1.0000
X:153454392:A:AT	donor_loss	1.0000
X:153454393:C:CC	donor_gain	1.0000
X:153454393:C:CG	donor_loss	1.0000
X:153454509:C:CC	acceptor_gain	1.0000
X:153455536:CCTTA:C	donor_loss	1.0000
X:153455537:CTTA:C	donor_loss	1.0000
X:153455538:TTACT:T	donor_loss	1.0000
X:153455539:TA:T	donor_loss	1.0000
X:153455540:A:AC	donor_gain	1.0000
X:153455541:C:CA	donor_gain	1.0000
X:153455541:CT:C	donor_gain	1.0000
X:153455541:CTTGG:C	donor_gain	1.0000
X:153455763:AGTA:A	acceptor_gain	1.0000
X:153455765:TA:T	acceptor_gain	1.0000
X:153455767:C:CC	acceptor_gain	1.0000
X:153456259:CCTCA:C	donor_loss	1.0000
X:153456260:CTCA:C	donor_loss	1.0000
X:153456263:A:AC	donor_gain	1.0000
X:153456263:ACCT:A	donor_gain	1.0000
X:153456264:C:CC	donor_gain	1.0000
X:153456264:C:CG	donor_loss	1.0000
X:153456264:CCT:C	donor_gain	1.0000
X:153456264:CCTC:C	donor_gain	1.0000
X:153456266:T:TA	donor_gain	1.0000
X:153456299:T:A	donor_gain	1.0000
X:153456360:TGGCC:T	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001795778 (X:153444234 G>A), RS1004497678 (X:153448008 A>G), RS1005318359 (X:153445055 G>A), RS1006368813 (X:153444310 C>A,G,T), RS1006729823 (X:153444080 C>T), RS1007503181 (X:153444646 G>A), RS1008169081 (X:153446628 G>A), RS1011222721 (X:153446073 G>A), RS1011587568 (X:153445750 G>A), RS1012410472 (X:153446292 C>T), RS1013235992 (X:153444015 C>A), RS1014080960 (X:153447568 C>T), RS1014985196 (X:153444093 T>G), RS1015449978 (X:153444311 G>A), RS1015838800 (X:153448024 C>T)

Disease associations

OMIM: gene MIM:300370 | disease phenotypes:

GenCC curated gene-disease

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

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; 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

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	2
aristolochic acid I	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
beta-lapachone	decreases expression	1
cobaltous chloride	decreases expression	1
chromium hexavalent ion	decreases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
riccardin D	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	decreases expression, increases abundance	1
Catechin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	increases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical 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
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders