| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Polymicrogyria and Schizencephaly v0.119 | PEX5 | Zornitza Stark Marked gene: PEX5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.119 | PEX5 | Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.119 | PEX5 | Zornitza Stark Classified gene: PEX5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.119 | PEX5 | Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.118 | PEX5 |
Paul De Fazio gene: PEX5 was added gene: PEX5 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 21031596 Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110) Review for gene: PEX5 was set to AMBER gene: PEX5 was marked as current diagnostic Added comment: Accounts for ~2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. Sources: Literature |
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