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| Mendeliome v2.508 | PREX1 |
Lucy Spencer gene: PREX1 was added gene: PREX1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PREX1 were set to 42399407; 26621702 Phenotypes for gene: PREX1 were set to Neurodevelopmental disorder (MONDO:0700092), PREX1-related Review for gene: PREX1 was set to RED Added comment: PMID 42399407 reports 1 individual with a de novo heterozygous missense p.Y191C PREX1 variant which has 1 heterozygote in gnomad. The proband had onset of epilepsy at 9yo which remitted at 13yo, she had no intellectual disability or abnormal MRI findings. Her mother also has several seizures and her maternal grandfather had one seizure as a child, however the PREX1 variant identified in the proband was de novo. Functional analysis of the variant showed that it reduced the GDP/GTP exchange activity of PREX1 towards RAC1 and attenuated downstream signaling. PMID 26621702 reports four probands with a heterozygous ~1.4 kb deletion over the promoter and exon 1 of PREX1 presenting. All presented with childhood‑onset autism spectrum disorder. Sources: Literature |
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