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| Intellectual disability syndromic and non-syndromic v1.248 | TMPRSS7 |
Zornitza Stark gene: TMPRSS7 was added gene: TMPRSS7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS7 were set to 40796295 Phenotypes for gene: TMPRSS7 were set to Neurodevelopmental disorder, TMPRSS7-related Review for gene: TMPRSS7 was set to RED Added comment: PMID 40796295: individual with compound het variants, p.R479H and p.S685Kfs*26 and neurodevelopmental disorder. Tmprss7 homozygous knockout (KO) mice exhibited dysregulated synaptic dendritic spine density, function, and dendritic elongation in the cerebral cortex and hippocampus. In addition, the KO animals displayed neurobehavioral deficits, including impairments in spatial learning, anxiety-like behavior, and a reduced preference for social novelty. Multi-omics analysis discovered enrichment of pathways related to synaptic signaling disruptions in both the cerebral cortex and hippocampus. Sources: Literature |
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