TRIO

Chr 5AD

trio Rho guanine nucleotide exchange factor

Also known as: ARHGEF23, MEBAS, MRD44, MRD63, tgat

NCBI Gene: 7204ENSG00000038382UniProt: O75962OMIM: 601893

This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 44, with microcephalyMIM #617061
AD
Intellectual developmental disorder, autosomal dominant 63, with macrocephalyMIM #618825
AD

Clinical highlights

Gene-disease validity (ClinGen)
syndromic intellectual disability · ADDefinitivesufficient evidence for diagnostic panels
12
Active trials
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Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRIO · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Idiopathic Short Stature

Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients

RECRUITING
NCT05858606Phase NAUniversity Hospital, MontpellierStarted 2026-03-16
Evaluation of the prevalence of truly (authentified) idiopathic short stature after multidisciplinary clinico-radiological evaluationanalysis in a multidisciplinary consultation meeting via a secure platform (ShareConfrère) for evaluation by multidisciplinary teamWhole genome analysis for authentified idiopathic short stature
Pigmentary; Dermatosis

Genomic Study of Cutis Tricolor

RECRUITING
NCT06073171Phase NAUniversity Hospital, MontpellierStarted 2024-06-05
Blood sampleCutaneous biopsyHigh troughput sequencing of human's exome
Neoplastic Syndromes, HereditaryCancerGenetic Predisposition to Disease

Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer

RECRUITING
NCT04903782Sydney Children's Hospitals NetworkStarted 2021-03-08
Family-based whole genome sequencing
Rare DiseasesGenetic DiseaseUndiagnosed Disease

UW Undiagnosed Genetic Diseases Program

RECRUITING
NCT04586075University of Wisconsin, MadisonStarted 2021-07-16
Trio Whole Genome Sequencing and Participant-Specific Research
High-Risk CancerLocally Advanced Breast Cancer

Three Fraction Radiation to Induce Immuno-Oncologic Response

ACTIVE NOT RECRUITING
NCT03978663Phase NALondon Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph'sStarted 2020-09-02
Neoadjuvant radiotherapy
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

RECRUITING
NCT01238250Simons SearchlightStarted 2010-10
Cerebellar Ataxias

The Benefits of Long-read High-throughput Genomic Sequencing for the Causal Diagnosis of Cerebellar Ataxias

RECRUITING
NCT06467175Phase NACentre Hospitalier Universitaire DijonStarted 2024-12-11
blood sampling for high molecular weight DNA extraction
Early-stage Breast CancerHormone Receptor Positive Breast CarcinomaInvasive Breast Cancer

Trastuzumab Deruxtecan Alone or in Combination With Anastrozole for the Treatment of Early Stage HER2 Low, Hormone Receptor Positive Breast Cancer

RECRUITING
NCT04553770Phase PHASE2Jonsson Comprehensive Cancer CenterStarted 2020-10-09
AnastrozoleTherapeutic Conventional SurgeryTrastuzumab Deruxtecan
Inflammatory DiseaseGenetic DiseaseSomatic Mutation

Molecular Diagnosis of Systemic Autoinflammatory Diseases

RECRUITING
NCT05364294Institut National de la Santé Et de la Recherche Médicale, FranceStarted 2022-05-18
Neuromuscular Diseases

The Neuroimage Study of the Neuromuscular Disorders.

RECRUITING
NCT05048862National Taiwan University HospitalStarted 2021-08-01
Neuromuscular ultrasoundMuscle MRINerve conduction studies and autonomic function tests
Congenital AnomalyPediatric Cancer

Genetic Overlap Between Anomalies and Cancer in Kids in the Children's Oncology Group: The COG GOBACK Study

ACTIVE NOT RECRUITING
NCT05071859Children's Oncology GroupStarted 2021-09-10
Whole Genome SequencingQuestionnaire AdministrationBiospecimen collection
EpilepsySeizuresSyncope

Genetic Markers of Cardiovascular Disease in Epilepsy

RECRUITING
NCT02824822Mayo ClinicStarted 2016-05

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients