| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Polymicrogyria and Schizencephaly v0.125 | PEX11B | Zornitza Stark Marked gene: PEX11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.125 | PEX11B | Zornitza Stark Added comment: Comment when marking as ready: Aware of another family tested through our service, but agree gene-disease association limited, and no specific reports of PMG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.125 | PEX11B | Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.125 | PEX11B | Zornitza Stark Classified gene: PEX11B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.125 | PEX11B | Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.120 | PEX11B |
Ain Roesley gene: PEX11B was added gene: PEX11B was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX11B were set to 22581968 Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (MIM#614920) Penetrance for gene: PEX11B were set to unknown Review for gene: PEX11B was set to RED Added comment: Accounts for ~0.1% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature PMID: 22581968; Sinlge patient reported Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||