Microcephaly
Gene: TRIO

TRIO (trio Rho guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000038382
EnsemblGeneIds (GRCh37): ENSG00000038382
OMIM: 601893, Gene2Phenotype
TRIO is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1. Individuals with a pathogenic variant in the seventh spectrin repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variants, who display milder ID and microcephaly.
Created: 6 Mar 2020, 9:27 a.m. | Last Modified: 6 Mar 2020, 9:27 a.m.

Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 44, MIM# 617061

Publications

Created: 6 Mar 2020, 9:27 a.m.
Last Modified: 6 Mar 2020, 9:27 a.m.
Panel version: 0.89

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, autosomal dominant 44, MIM# 617061

OMIM

601893

Clinvar variants

Variants in TRIO

Penetrance

None

Publications

Panels with this gene