| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Polymicrogyria and Schizencephaly v0.111 | SNAP29 | Seb Lunke Marked gene: SNAP29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.111 | SNAP29 | Seb Lunke Gene: snap29 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.111 | SNAP29 | Seb Lunke Classified gene: SNAP29 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.111 | SNAP29 | Seb Lunke Gene: snap29 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.97 | SNAP29 |
Paul De Fazio gene: SNAP29 was added gene: SNAP29 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783 Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Review for gene: SNAP29 was set to GREEN gene: SNAP29 was marked as current diagnostic Added comment: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)). Sources: Literature |
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