IBMDx study
Gene: RPL31
RPL31 (ribosomal protein L31)
EnsemblGeneIds (GRCh38): ENSG00000071082
EnsemblGeneIds (GRCh37): ENSG00000071082
OMIM: 617415, Gene2Phenotype
RPL31 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000071082
EnsemblGeneIds (GRCh37): ENSG00000071082
OMIM: 617415, Gene2Phenotype
RPL31 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three individuals reported with DBA phenotype and variants in this gene: one with a large, multi-gene deletion which is de novo. One with a de novo splice site variant that does not disrupt the coding sequence, but is predicted to generate 2 open-reading frames (ORF) upstream of the RPL31 ORF and was thus postulated to impair translation of RPL31 mRNA (arguably a VOUS). The third individual was reported in PMID 25042156 with a missense variant, no segregation or functional data available, this variant is a VOUS.
Sources: Expert listCreated: 14 Sep 2020, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond Blackfan anaemia
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Amber
- Expert list
- Phenotypes
-
- Diamond Blackfan anaemia
- OMIM
- 617415
- Clinvar variants
- Variants in RPL31
- Penetrance
- None
- Panels with this gene
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RPL31 was added gene: RPL31 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPL31 was set to Unknown Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia