| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bone Marrow Failure v1.121 | RPL17 | Zornitza Stark Marked gene: RPL17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.121 | RPL17 | Zornitza Stark Gene: rpl17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.121 | RPL17 | Zornitza Stark Classified gene: RPL17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.121 | RPL17 | Zornitza Stark Gene: rpl17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.120 | RPL17 |
Zornitza Stark gene: RPL17 was added gene: RPL17 was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL17 were set to 39088281 Phenotypes for gene: RPL17 were set to Diamond-Blackfan anaemia 22, MIM# 621262 Review for gene: RPL17 was set to GREEN Added comment: PMID:39088281 reported two different pedigrees identified with monoallelic variants in RPL17 gene (3C>G & c.452delC/ p.(Thr151Argfs*25). Affected individuals from both pedigrees exhibited clinical features and erythroid proliferation defects consistent with Diamond-Blackfan anaemia. Individuals from first family also presented with skeletal abnormalities, which were not reported in family 2. Modelling of rpl17 deficiency in zebrafish recapitulated the major clinical features of the disorder including anaemia and micrognathia. There is also functional evidence available from lymphoblastoid cell lines (LCLs) derived from patients, which displayed a ribosomal RNA maturation defect reflecting haploinsufficiency of RPL17. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||