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| Red cell disorders v1.57 | RPL18 | Zornitza Stark Phenotypes for gene: RPL18 were changed from Diamond-Blackfan anemia 18, MIM# 618310 to Diamond-Blackfan anaemia 18, MIM# 618310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.56 | RPL18 | Zornitza Stark Publications for gene: RPL18 were set to 28280134; 32075953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.55 | RPL18 |
Zornitza Stark edited their review of gene: RPL18: Added comment: Two recent studies add 2 unrelated families with Diamond‑Blackfan anaemia and RPL18 variants. PMID 40510848 reports one autosomal‑recessive family with compound‑heterozygous missense variants (p.Phe43Ser, p.Asp348Asn). LIMITED evidence for this MOI. Leschchynska2026 describes one autosomal‑dominant family (3 affected family members) with heterozygous p.G133R and VACTERL anomalies and anaemia; functional assays show protein instability and 22 % reduced protein synthesis. However, another RPS6 variant co-segregates with disease also. All variants are absent from gnomAD.; Changed publications: 28280134, 32075953, 40510848, 41851260; Changed phenotypes: Diamond-Blackfan anemia 18, MIM# 618310 |
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| Red cell disorders v0.182 | RPL18 | Zornitza Stark Marked gene: RPL18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.182 | RPL18 | Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.182 | RPL18 | Zornitza Stark Phenotypes for gene: RPL18 were changed from Diamond-Blackfan anaemia to Diamond-Blackfan anemia 18, MIM# 618310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.181 | RPL18 | Zornitza Stark Publications for gene: RPL18 were set to 28280134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.1 | RPL18 | Zornitza Stark Added phenotypes Diamond-Blackfan anaemia for gene: RPL18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.0 | RPL18 |
Zornitza Stark gene: RPL18 was added gene: RPL18 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL18 were set to 28280134 Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia |
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