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Severe microcephaly

Gene: TRIO

No list

TRIO (trio Rho guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000038382
EnsemblGeneIds (GRCh37): ENSG00000038382
OMIM: 601893, Gene2Phenotype
TRIO is in 6 panels

1 review

Zornitza Stark (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.
Sources: Expert list
Created: 4 Sep 2020, 10:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 44, MIM# 617061

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Mental retardation, autosomal dominant 44, MIM# 617061
OMIM
601893
Clinvar variants
Variants in TRIO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TRIO was added gene: TRIO was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIO were set to 26721934; 32109419 Phenotypes for gene: TRIO were set to Mental retardation, autosomal dominant 44, MIM# 617061 Review for gene: TRIO was set to GREEN gene: TRIO was marked as current diagnostic