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| Callosome v0.565 | TAF2 |
Boris Keren gene: TAF2 was added gene: TAF2 was added to Callosome. Sources: Literature Mode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF2 were set to PMID: 34474177 Phenotypes for gene: TAF2 were set to intellectual disability; epilepsy; thin corpus callosum Penetrance for gene: TAF2 were set to Complete Mode of pathogenicity for gene: TAF2 was set to Other Review for gene: TAF2 was set to GREEN gene: TAF2 was marked as current diagnostic Added comment: Most patients have severe intellectual disability, microcephaly, thin corpus callosum. 9 reported patients from 4 families. Only missenses are reported for now but the mechanism is currently unknown Sources: Literature |
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