| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mackenzie's Mission_Reproductive Carrier Screening v0.43 | PRKRA | Seb Lunke Marked gene: PRKRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.43 | PRKRA | Seb Lunke Gene: prkra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.43 | PRKRA | Seb Lunke Classified gene: PRKRA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.43 | PRKRA | Seb Lunke Gene: prkra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | PRKRA |
Sarah Righetti gene: PRKRA was added gene: PRKRA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKRA were set to 29279192; 25142429 Phenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067 Review for gene: PRKRA was set to GREEN Added comment: Sufficient reports - most common variant is c.665C>T p.Pro222Leu, rs121434410 PMID 29279192 (2017)- 7 patients in Brazilian cohort - most homozygous for P222L PMID 2514249: (2014) - 2 Polish sibs - hom for P222L Sources: Expert Review |
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