| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Choanal atresia v0.28 | RERE | Zornitza Stark Marked gene: RERE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.28 | RERE | Zornitza Stark Gene: rere has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.28 | RERE | Zornitza Stark Classified gene: RERE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.28 | RERE | Zornitza Stark Gene: rere has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.27 | RERE |
Zornitza Stark gene: RERE was added gene: RERE was added to Choanal atresia. Sources: Expert Review Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RERE were set to 27087320; 29330883 Phenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Review for gene: RERE was set to GREEN Added comment: A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. Choanal atresia has only been reported in association with the recurrent p.(Leu1438_His1439dup) variant. Sources: Expert Review |
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