Diamond Blackfan anaemia
Gene: RPL8EnsemblGeneIds (GRCh38): ENSG00000161016
EnsemblGeneIds (GRCh37): ENSG00000161016
OMIM: 604177, Gene2Phenotype
RPL8 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production.
Sources: LiteratureCreated: 4 Feb 2022, 4:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia MONDO:0015253
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Diamond-Blackfan anemia MONDO:0015253
- OMIM
- 604177
- Clinvar variants
- Variants in RPL8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPL8 was added gene: RPL8 was added to Diamond Blackfan anaemia. Sources: Literature Mode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL8 were set to 25424902; 34961992 Phenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253 Review for gene: RPL8 was set to AMBER