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| Prepair 1000+ v0.135 | PRKRA |
Zornitza Stark changed review comment from: Founder variant but multiple other families reported. Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection.; to: Founder variant but multiple other families reported. Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection. Risk of false negatives is low. |
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| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark Marked gene: PRKRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark Gene: prkra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark Tag for review was removed from gene: PRKRA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.64 | PRKRA | Zornitza Stark Tag for review tag was added to gene: PRKRA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | PRKRA | Crystle Lee reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: None; Publications: 35844281, 18243799, 25142429, 35844287; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | PRKRA |
Zornitza Stark gene: PRKRA was added gene: PRKRA was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 25142429; 29279192 Phenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067 |
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