Severe microcephaly
Gene: TRIO
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 listCreated: 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
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