Severe microcephalyGene: EXOC7
Comment on list classification: Though mild microcephaly reported in 5/8 cases (-0.5 to -2.6 SD), rating Amber as severity of presentation is not within the scope of this panel.
Created: 7 Sep 2020, 2:45 p.m. | Last Modified: 7 Sep 2020, 2:45 p.m.
Panel Version: 2.21
4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration.
Sources: Expert list
Created: 4 Sep 2020, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
brain atrophy; seizures; developmental delay; microcephaly
Variants in this GENE are reported as part of current diagnostic practice
Gene: exoc7 has been classified as Amber List (Moderate Evidence).
gene: EXOC7 was added gene: EXOC7 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC7 were set to 32103185 Phenotypes for gene: EXOC7 were set to brain atrophy; seizures; developmental delay; microcephaly Review for gene: EXOC7 was set to GREEN gene: EXOC7 was marked as current diagnostic