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  3. RPL31
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Bone Marrow Failure

Gene: RPL31

Amber List (moderate evidence)
RPL31 (ribosomal protein L31)
EnsemblGeneIds (GRCh38): ENSG00000071082
EnsemblGeneIds (GRCh37): ENSG00000071082
OMIM: 617415, Gene2Phenotype
RPL31 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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 list
Created: 14 Sep 2020, 8:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond Blackfan anaemia

Publications

Created: 14 Sep 2020, 8:07 a.m.

Panel version: 0.119

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diamond Blackfan anaemia
OMIM
617415
Clinvar variants
Variants in RPL31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl31 has been classified as Amber List (Moderate Evidence).

14 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl31 has been classified as Amber List (Moderate Evidence).

14 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL31 was added gene: RPL31 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL31 were set to 25042156; 25424902 Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia Review for gene: RPL31 was set to AMBER