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| Mendeliome v1.4822 | RPL18 |
Zornitza Stark changed review comment from: Three recent studies add 3 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. PMID 28280134 reports one autosomal‑dominant family (father‑son) with heterozygous p.L51S; patient mononuclear cells display 36S pre‑rRNA accumulation, indicating a ribosome‑biogenesis defect. All variants are absent from gnomAD.; to: 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. |
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| Mendeliome v1.4822 | RPL18 | Zornitza Stark edited their review of gene: RPL18: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4822 | RPL18 |
Zornitza Stark edited their review of gene: RPL18: Added comment: Three recent studies add 3 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. PMID 28280134 reports one autosomal‑dominant family (father‑son) with heterozygous p.L51S; patient mononuclear cells display 36S pre‑rRNA accumulation, indicating a ribosome‑biogenesis defect. All variants are absent from gnomAD.; Changed rating: GREEN; Changed publications: 41851260, 40510848, 28280134; Changed phenotypes: Diamond-Blackfan anemia 18, MONDO:0032668 |
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| Mendeliome v0.6607 | RPL18 | Zornitza Stark Marked gene: RPL18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6607 | RPL18 | Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6607 | RPL18 | Zornitza Stark Classified gene: RPL18 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6607 | RPL18 | Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6606 | RPL18 |
Zornitza Stark gene: RPL18 was added gene: RPL18 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL18 were set to 28280134; 32075953 Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310 Review for gene: RPL18 was set to AMBER Added comment: One family and a zebrafish model. Sources: Expert list |
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