GARNL3

Summary

GARNL3 (GTPase activating Rap/RanGAP domain like 3, HGNC:25425) is a protein-coding gene on chromosome 9q33.3, encoding GTPase-activating Rap/Ran-GAP domain-like protein 3 (Q5VVW2).

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction.

Source: NCBI Gene 84253 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 131 total — 1 likely-pathogenic
• MANE Select transcript: NM_032293

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25425
Approved symbol	GARNL3
Name	GTPase activating Rap/RanGAP domain like 3
Location	9q33.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp761J1523, bA356B19.1
Ensembl gene	ENSG00000136895
Ensembl biotype	protein_coding
Entrez	84253

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 6 protein_coding, 6 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay, 5 retained_intron

ENST00000373386, ENST00000373387, ENST00000425970, ENST00000429629, ENST00000435213, ENST00000439286, ENST00000441134, ENST00000444677, ENST00000446764, ENST00000453030, ENST00000460176, ENST00000463005, ENST00000464616, ENST00000478696, ENST00000478702, ENST00000481242, ENST00000481875, ENST00000487565, ENST00000495172, ENST00000496711, ENST00000497703, ENST00000498801

RefSeq mRNA: 2 — MANE Select: NM_032293 NM_001286779, NM_032293

CCDS: CCDS6869, CCDS69663

Canonical transcript exons

ENST00000373387 — 28 exons

Exon	Start	End
ENSE00001608293	127344235	127344339
ENSE00001668541	127355297	127355472
ENSE00001720432	127348924	127349035
ENSE00001829131	127393083	127393660
ENSE00001862300	127264774	127265021
ENSE00003363424	127339645	127339751
ENSE00003386493	127342219	127342334
ENSE00003432669	127338116	127338161
ENSE00003457914	127336128	127336236
ENSE00003477395	127357219	127357377
ENSE00003508324	127383438	127383545
ENSE00003511696	127354294	127354410
ENSE00003517931	127345403	127345477
ENSE00003523930	127390641	127390767
ENSE00003550687	127311636	127311735
ENSE00003558534	127332274	127332349
ENSE00003569185	127313441	127313559
ENSE00003575333	127291168	127291242
ENSE00003575626	127318063	127318127
ENSE00003577595	127353846	127353944
ENSE00003599711	127325069	127325095
ENSE00003613554	127335230	127335333
ENSE00003614928	127365300	127365366
ENSE00003623395	127333023	127333121
ENSE00003642488	127385027	127385145
ENSE00003650683	127387193	127387331
ENSE00003671632	127388904	127389119
ENSE00003786231	127320715	127320778

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 97.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.4635 / max 227.2351, expressed in 955 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98589	1.8844	718
98587	0.7637	413
98588	0.3319	206
98594	0.3191	94
98586	0.3079	172
98590	0.2210	93
98593	0.1807	63
98596	0.1320	51
98595	0.1282	58
98592	0.1171	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	97.46	gold quality
cerebellar cortex	UBERON:0002129	97.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.40	gold quality
cerebellum	UBERON:0002037	96.81	gold quality
popliteal artery	UBERON:0002250	94.98	gold quality
tibial artery	UBERON:0007610	94.98	gold quality
cortical plate	UBERON:0005343	93.69	gold quality
endothelial cell	CL:0000115	93.30	silver quality
right frontal lobe	UBERON:0002810	93.29	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.19	gold quality
cerebellar vermis	UBERON:0004720	92.94	gold quality
aorta	UBERON:0000947	92.25	gold quality
sural nerve	UBERON:0015488	92.24	gold quality
anterior cingulate cortex	UBERON:0009835	91.21	gold quality
body of uterus	UBERON:0009853	91.18	gold quality
primary visual cortex	UBERON:0002436	91.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.93	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.69	gold quality
prefrontal cortex	UBERON:0000451	90.67	gold quality
amygdala	UBERON:0001876	90.50	gold quality
right coronary artery	UBERON:0001625	90.49	gold quality
neocortex	UBERON:0001950	90.16	gold quality
hypothalamus	UBERON:0001898	89.92	gold quality
frontal cortex	UBERON:0001870	89.90	gold quality
descending thoracic aorta	UBERON:0002345	89.81	gold quality
corpus epididymis	UBERON:0004359	89.10	gold quality
cerebral cortex	UBERON:0000956	88.99	gold quality
left coronary artery	UBERON:0001626	88.89	gold quality
thoracic aorta	UBERON:0001515	88.88	gold quality
spinal cord	UBERON:0002240	88.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting GARNL3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-449B-3P	99.20	67.24	1047
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-496	98.66	69.80	931
HSA-MIR-548AT-3P	98.37	64.98	580
HSA-MIR-548AY-3P	98.37	65.14	562
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-8069	97.05	66.79	718
HSA-MIR-4442	92.35	67.08	98

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	garnl3	ENSDARG00000060631
mus_musculus	Garnl3	ENSMUSG00000038860
rattus_norvegicus	Garnl3	ENSRNOG00000057044
drosophila_melanogaster	RapGAP1	FBGN0264895
caenorhabditis_elegans		WBGENE00018734

Paralogs (6): RAP1GAP (ENSG00000076864), SIPA1L3 (ENSG00000105738), SIPA1L2 (ENSG00000116991), RAP1GAP2 (ENSG00000132359), SIPA1L1 (ENSG00000197555), SIPA1 (ENSG00000213445)

Protein

Protein identifiers

GTPase-activating Rap/Ran-GAP domain-like protein 3 — Q5VVW2 (reviewed: Q5VVW2)

All UniProt accessions (9): A0A0C4DFW0, C9J8L5, C9J9U0, C9JFS0, F2Z2Q8, F8WB68, Q5JS19, Q5VVW2, S4R3P7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GARNL3 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q5VVW2-1	1	yes
Q5VVW2-2	2
Q5VVW2-3	3
Q5VVW2-4	4
Q5VVW2-5	5

RefSeq proteins (2): NP_001273708, NP_115669* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000331	Rap/Ran_GAP_dom	Domain
IPR001180	CNH_dom	Domain
IPR035974	Rap/Ran-GAP_sf	Homologous_superfamily
IPR050989	Rap1_Ran_GAP	Family

Pfam: PF00780, PF02145

UniProt features (22 total): splice variant 7, modified residue 4, compositionally biased region 4, domain 2, sequence variant 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VVW2-F1	74.39	0.40

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 (4): 426, 432, 827, 45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, AACTTT_UNKNOWN, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, YNGTTNNNATT_UNKNOWN, GOMF_ENZYME_ACTIVATOR_ACTIVITY, ATGGYGGA_UNKNOWN, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, SMAD_Q6, DCA_UP.V1_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_UP, ARID5B_TARGET_GENES, ATF5_TARGET_GENES, CEBPZ_TARGET_GENES

GO Biological Process (1): regulation of small GTPase mediated signal transduction (GO:0051056)

GO Molecular Function (1): GTPase activator activity (GO:0005096)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1

Protein interactions and networks

STRING

284 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GARNL3	INPP5A	Q14642	616
GARNL3	RALGPS1	Q5JS13	548
GARNL3	CARNMT1	Q8N4J0	537
GARNL3	RGS8	P57771	499
GARNL3	PCP4	P48539	489
GARNL3	HOMER3	Q9NSC5	482
GARNL3	TBRG1	Q3YBR2	480
GARNL3	GRAMD1B	Q3KR37	462
GARNL3	GRID2	O43424	451
GARNL3	EI24	O14681	444
GARNL3	KRTAP10-1	P60331	419
GARNL3	RGS9	O75916	416
GARNL3	TRAPPC10	P48553	405
GARNL3	GAPT	Q8N292	386
GARNL3	ZIM3	Q96PE6	381

IntAct

2 interactions, top by confidence:

A	B	Type	Score
GARNL3	SLC16A1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (20): GARNL3 (Affinity Capture-MS), GARNL3 (Affinity Capture-RNA), GARNL3 (Proximity Label-MS), GARNL3 (Affinity Capture-RNA), HADHA (Cross-Linking-MS (XL-MS)), SF3B1 (Cross-Linking-MS (XL-MS)), GIGYF2 (Cross-Linking-MS (XL-MS)), GARNL3 (Cross-Linking-MS (XL-MS)), GARNL3 (Affinity Capture-MS), GARNL3 (Affinity Capture-MS), GARNL3 (Proximity Label-MS), GARNL3 (Proximity Label-MS), GARNL3 (Proximity Label-MS), GARNL3 (Proximity Label-MS), GARNL3 (Proximity Label-MS)

ESM2 similar proteins: A0A125YWU9, A4HVU6, B6EU02, F1QHM7, F1QX91, F5HB62, G5EBL2, G5ECJ0, G5ED05, G5EDW2, H2KZU7, O45813, O46080, O60353, O60503, P0C5E7, P0C5J9, P18475, P22815, P34358, P34389, P51830, P54779, P98999, Q09147, Q10128, Q20500, Q22271, Q24592, Q24738, Q29000, Q3V0G7, Q4E409, Q4QFY1, Q5RCN4, Q5VVW2, Q5Y5T3, Q61089, Q622X0, Q6P9Z6

Diamond homologs: A2ALS5, A5PF44, G3X9J0, O35412, O43166, O60292, P46062, P47736, P49815, P49816, Q3V0G7, Q54EH3, Q55AN8, Q5JCS6, Q5SVL6, Q5VVW2, Q5ZJY3, Q5ZMV8, Q61037, Q684P5, Q75J96, Q80TE4, Q8C0T5, Q96FS4, Q9P2F8, Q2PPJ7, Q9UUG9, A3KGS3, P86411, Q6GYQ0, O55007, P86409, Q54SS8, Q6GYP7, Q9VB98, Q54TK4, Q8BUL6, Q9HB21

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	103
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
996581	NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg)	Likely pathogenic

SpliceAI

4232 predictions. Top by Δscore:

Variant	Effect	Δscore
9:127291166:A:AG	acceptor_gain	1.0000
9:127291167:G:GA	acceptor_gain	1.0000
9:127291167:GC:G	acceptor_gain	1.0000
9:127291167:GCT:G	acceptor_gain	1.0000
9:127291167:GCTT:G	acceptor_gain	1.0000
9:127291167:GCTTA:G	acceptor_gain	1.0000
9:127291241:AGG:A	donor_loss	1.0000
9:127291243:G:GC	donor_loss	1.0000
9:127291244:T:A	donor_loss	1.0000
9:127313439:A:AG	acceptor_gain	1.0000
9:127313440:G:GC	acceptor_gain	1.0000
9:127313440:GT:G	acceptor_gain	1.0000
9:127313440:GTC:G	acceptor_gain	1.0000
9:127313440:GTCC:G	acceptor_gain	1.0000
9:127313555:AAACA:A	donor_gain	1.0000
9:127313556:AACA:A	donor_gain	1.0000
9:127313557:ACA:A	donor_gain	1.0000
9:127313558:CA:C	donor_gain	1.0000
9:127313558:CAGTA:C	donor_loss	1.0000
9:127313559:AGT:A	donor_loss	1.0000
9:127313560:G:GG	donor_gain	1.0000
9:127313561:TA:T	donor_loss	1.0000
9:127313562:AA:A	donor_loss	1.0000
9:127333122:G:GG	donor_gain	1.0000
9:127336184:A:T	donor_gain	1.0000
9:127336200:GCCTT:G	donor_gain	1.0000
9:127336204:T:TG	donor_gain	1.0000
9:127339747:GAAAT:G	donor_gain	1.0000
9:127339752:G:GG	donor_gain	1.0000
9:127342217:A:AG	acceptor_gain	1.0000

AlphaMissense

6647 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:127265008:G:A	G44E	1.000
9:127291169:T:C	L49P	1.000
9:127291213:T:C	F64L	1.000
9:127291214:T:C	F64S	1.000
9:127291214:T:G	F64C	1.000
9:127291215:C:A	F64L	1.000
9:127291215:C:G	F64L	1.000
9:127291217:G:C	R65T	1.000
9:127291218:A:C	R65S	1.000
9:127291218:A:T	R65S	1.000
9:127311708:T:A	W98R	1.000
9:127311708:T:C	W98R	1.000
9:127313447:A:C	Q109P	1.000
9:127313452:T:G	Y111D	1.000
9:127313459:G:A	G113E	1.000
9:127313491:T:C	S124P	1.000
9:127313533:T:G	Y138D	1.000
9:127313546:T:C	L142P	1.000
9:127332289:A:G	K204E	1.000
9:127332291:G:C	K204N	1.000
9:127332291:G:T	K204N	1.000
9:127332295:G:A	G206R	1.000
9:127332295:G:C	G206R	1.000
9:127332295:G:T	G206W	1.000
9:127332296:G:A	G206E	1.000
9:127332302:T:C	L208P	1.000
9:127332328:G:C	D217H	1.000
9:127333110:T:C	L253P	1.000
9:127335241:G:A	G261R	1.000
9:127335241:G:C	G261R	1.000

dbSNP variants (sampled 300 via entrez): RS1000035887 (9:127266308 G>A), RS1000060850 (9:127266585 T>C), RS1000069838 (9:127381120 G>A,T), RS1000074438 (9:127328212 A>G), RS1000101317 (9:127316874 A>G), RS1000102330 (9:127280769 T>C), RS1000110881 (9:127280767 T>C), RS1000140784 (9:127259559 G>A), RS1000166189 (9:127306503 G>A), RS1000171747 (9:127353117 C>T), RS1000179600 (9:127225364 C>T), RS1000227824 (9:127332477 T>A), RS1000250773 (9:127286646 G>T), RS1000265223 (9:127299174 G>A), RS1000302608 (9:127375882 G>C)

Disease associations

OMIM: gene `` | 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

4 associations (top):

Study	Trait	p-value
GCST001824_11	Metabolite levels (HVA)	5.000000e-06
GCST002591_16	Lewy body disease	9.000000e-06
GCST006865_9	Bipolar disorder	3.000000e-06
GCST007328_83	Alcohol consumption (drinks per week)	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005131	HVA measurement
EFO:0006799	Lewy body dementia measurement

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

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	decreases expression	2
Aflatoxin B1	increases methylation	2
aristolochic acid I	decreases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, increases methylation	1
titanium dioxide	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	increases expression, increases abundance	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
pentanal	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Temozolomide	affects response to substance	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Atrazine	decreases expression	1
Caffeine	increases phosphorylation	1
Carmustine	affects response to substance	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	increases expression	1
Hydrogen Peroxide	affects expression	1
Lead	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
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