TRIO Chromosome 5
Trio Rho guanine nucleotide exchange factor
Upload your DNA to see your personal genotypes for variants in TRIO.
What This Gene Does
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]
Gene Info
Gene Group
"I-set domain containing|Dbl family Rho GEFs|TRIO family|Spectrin repeat containing|CRAL-TRIO lipid binding domain containing"
Locus Type
gene with protein product
Location
5p15.2
Ensembl
ENSG00000038382
Associated Conditions (14)
Inborn genetic diseases
TRIO-related disorder
Intellectual developmental disorder
autosomal dominant 63
with macrocephaly
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Intellectual disability
Congenital anomaly of kidney and urinary tract
autosomal dominant 40
See cases
Microcephaly
Tip-toe gait
Neurodevelopmental delay
Autosomal recessive nonsyndromic hearing loss 28
Key Variants
RS1006366530
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1052849519
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114451941
Conflicting classifications of pathogenicity
Inborn genetic diseases, TRIO-related disorder, Intellectual developmental disorder
Health Risk
RS1262429321
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
Health Risk
RS1372405222
Conflicting classifications of pathogenicity
Health Risk
RS138840811
Conflicting classifications of pathogenicity
TRIO-related disorder, TRIO-related disorder
Health Risk
RS145985294
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
Health Risk
RS1460639961
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150431198
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
Health Risk
RS150972552
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554062562
Conflicting classifications of pathogenicity
Inborn genetic diseases, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual disability
Health Risk
RS199638306
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (148)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1746681452 | Health Risk | Likely pathogenic | — |
| RS1746764895 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1746847394 | Health Risk | Likely pathogenic | — |
| RS1747352673 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS1755607724 | Health Risk | Likely pathogenic | — |
| RS1756936101 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1795936426 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2126522675 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2126523176 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2126611738 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2126637259 | Health Risk | Likely pathogenic | — |
| RS2152284932 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly |
| RS2152290090 | Health Risk | Likely pathogenic | Tip-toe gait, Tip-toe gait |
| RS2152305937 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly |
| RS2152340689 | Health Risk | Likely pathogenic | — |
| RS2152340697 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2152344481 | Health Risk | Likely pathogenic | — |
| RS2152354197 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2152373759 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2152373800 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2477402345 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2477476240 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532073497 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532138789 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532619002 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2532655785 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532657267 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532735873 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28 |
| RS2532769281 | Health Risk | Likely pathogenic | TRIO-related disorder, TRIO-related disorder |
| RS2532852191 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532920318 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532946460 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532980661 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532981193 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2533042732 | Health Risk | Likely pathogenic | TRIO-related disorder, TRIO-related disorder |
| RS2533486612 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder, autosomal dominant 63 |
| RS2533501391 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly |
| RS2533562200 | Health Risk | Likely pathogenic | TRIO-related disorder, TRIO-related disorder |
| RS2533563164 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2533582735 | Health Risk | Likely pathogenic | TRIO-related disorder, TRIO-related disorder |
| RS2533602549 | Health Risk | Likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS1057516029 | Health Risk | Pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS1179257010 | Health Risk | Pathogenic | — |
| RS1359262571 | Health Risk | Pathogenic | — |
| RS1436796227 | Health Risk | Pathogenic | — |
| RS1554062588 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554064737 | Health Risk | Pathogenic | — |
| RS1554064863 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554065887 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 28, Inborn genetic diseases, Intellectual developmental disorder |
| RS1554065893 | Health Risk | Pathogenic | — |