| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.1358 | FYB1 | Zornitza Stark Marked gene: FYB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1358 | FYB1 | Zornitza Stark Gene: fyb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1358 | FYB1 | Zornitza Stark Classified gene: FYB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1358 | FYB1 | Zornitza Stark Gene: fyb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1357 | FYB1 |
Zornitza Stark gene: FYB1 was added gene: FYB1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: FYB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FYB1 were set to 25516138; 25876182 Phenotypes for gene: FYB1 were set to Thrombocytopenia 3, MIM# 273900 Review for gene: FYB1 was set to GREEN Added comment: Two families with LoF variants and segregation reported in the literature. Aware of two additional cases through clinical testing (Prevention Genetics). Good functional evidence, including mouse models. Moderate by ClinGen, though note score was in 'Strong' range and downgraded due to two families in the literature only. Sources: Expert Review |
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