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| Intellectual disability v9.389 | PGBD5 |
Karen Stals gene: PGBD5 was added gene: PGBD5 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PGBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGBD5 were set to PMID: 41533792 Phenotypes for gene: PGBD5 were set to Seizures; global developmental delay; spasticity; hypotonia Penetrance for gene: PGBD5 were set to Complete Review for gene: PGBD5 was set to GREEN gene: PGBD5 was marked as current diagnostic Added comment: Zapater et al. 2026 PMID:41533792 report 5 families with homozygous loss of function variants in PGBD5 co-segregating in two affected siblings in each family (variants identified via whole exome sequencing). Authors show that PGBD5 contributes to normal brain development in mice and humans. Sources: Literature |
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