| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Polymicrogyria and Schizencephaly v0.129 | PEX14 | Zornitza Stark Marked gene: PEX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.129 | PEX14 | Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.129 | PEX14 | Zornitza Stark Classified gene: PEX14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.129 | PEX14 | Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.125 | PEX14 |
Paul De Fazio gene: PEX14 was added gene: PEX14 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 21031596; 18285423; 15146459; 30224891 Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Review for gene: PEX14 was set to AMBER gene: PEX14 was marked as current diagnostic Added comment: Accounts for ~0.5% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). At least 3 independent patients have been reported with a homozygous nonsense variant, a rare missense variant, and a whole-exon deletion (PMID: 18285423, 15146459, 30224891) so gene-disease association is established. 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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