TRIO
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRIO (HGNC:12303) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
trio Rho guanine nucleotide exchange factor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ARHGEF23
%HI
25.7(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.22(Read more about gnomAD LOEUF score)
Cytoband
5p15.2
Genomic Coordinates
GRCh37/hg19: chr5:14143451-14510313 NCBI Ensembl UCSC
GRCh38/hg38: chr5:14143342-14510204 NCBI Ensembl UCSC
MANE Select Transcript
NM_007118.4 ENST00000344204.9 (Read more about MANE Select)
Function
Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:22155786, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786). Plays a key role in the regulation of neurite outgrowth and lamellipodia formation (PubMed:32109419). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25787
ClinGen Curation ID:
CCID:008043
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/24/2018

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Monarch
HI Evidence:
  • PUBMED: 25533962
    The 'Deciphering Developmental Disorders' (DDD) study (Nature, 2015) reported finding 2 patients with de novo missense and a patient with a de novo 82Kb deletion of 16 exons in the TRIO gene. The study used a combination of exome sequencing and array-based detection of chromosomal rearrangements and included 1,133 children with severe, undiagnosed developmental disorders and their parents.
  • PUBMED: 25363760
    De Rubeis et al. (2014) used exome sequencing and statistical analyses to identify autism associated genes. TRIO was identified as one such candidate gene as a result of a de novo loss of function mutation in one case (out of 3,871 autism cases).
  • PUBMED: 26721934
    Ba et al (2016) reported the detection of a de novo deletion of TRIO in a child with intellectual disability (ID). Three additional cases with truncating mutations were found by targeted sequencing of the TRIO gene in over 2300 patients with ID. The authors indicate that the data supports loss of TRIO function as causal for the clinical phenotype.
HI Evidence Comments:
Heterozygous mutations in TRIO are associated with Mental retardation, autosomal dominant 44. Most patients have mild craniofacial abnormalities, mild to borderline ID and behavioral problems. Although most variants reported to date are de novo and truncating, in at least one case, inheritance from a similarly affected parent has been reported (Varvagiannis et al., 2017).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No duplications involving only the entire TRIO gene reported

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)