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| Bone Marrow Failure v1.98 | RPL26 | Zornitza Stark Publications for gene: RPL26 were set to 22431104 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.97 | RPL26 | Zornitza Stark Classified gene: RPL26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.97 | RPL26 | Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.96 | RPL26 | Zornitza Stark edited their review of gene: RPL26: Added comment: PMID 39268718: Additional reported cases with multiple congenital anomalies - predominantly radial ray defects Article reports five individuals from one family with an intronic variant (c.-6+3_-6+25del). The variant was shown to segregate with AD pattern across 3 generations in similarly affected individuals. Reported two other unrelated individuals with de novo variants (p.Met30Cysfs*9 and c.-5-2A>G).; Changed rating: GREEN; Changed publications: 22431104, 39268718; Changed phenotypes: Diamond-Blackfan anemia 11, MIM# 614900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.37 | RPL26 | Zornitza Stark Marked gene: RPL26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.37 | RPL26 | Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.37 | RPL26 |
Zornitza Stark gene: RPL26 was added gene: RPL26 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL26 were set to 22431104 Phenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900 Review for gene: RPL26 was set to RED Added comment: Single reported individual. Sources: Expert list |
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