| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Diamond Blackfan anaemia v1.17 | RPL4 | Zornitza Stark Marked gene: RPL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.17 | RPL4 | Zornitza Stark Gene: rpl4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.17 | RPL4 |
Zornitza Stark gene: RPL4 was added gene: RPL4 was added to Diamond Blackfan anaemia. Sources: Literature Mode of inheritance for gene: RPL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL4 were set to 30213830 Phenotypes for gene: RPL4 were set to Diamond Blackfan anaemia, MONDO:0015253, RPL4-related Review for gene: RPL4 was set to RED Added comment: PMID 30213830 reports a single individual with a de novo heterozygous splice‑site RPL4 variant presenting with Diamond‑Blackfan anemia‑like syndrome (macrocytic anemia, growth retardation, cleft lip, low‑set ears, toe anomalies, developmental delay, short stature, hearing loss). Functional assays show aberrant splicing, impaired ribosomal RNA processing, and somatic reversion via mosaic UPD15q, supporting loss‑of‑function haploinsufficiency. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||