| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bone Marrow Failure v1.79 | RPL8 | Zornitza Stark Marked gene: RPL8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.79 | RPL8 | Zornitza Stark Gene: rpl8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.75 | RPL8 | Chirag Patel Classified gene: RPL8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.75 | RPL8 | Chirag Patel Gene: rpl8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.74 | RPL8 |
Chirag Patel gene: RPL8 was added gene: RPL8 was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL8 were set to PMID: 25424902, 34961992 Phenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253 Review for gene: RPL8 was set to AMBER Added comment: 2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production. Sources: Literature |
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