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Newborns main panel

Gene: RPL31

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 15 Oct 2025, 2:48 p.m. | Last Modified: 15 Oct 2025, 2:48 p.m.
Panel Version: 0.480
Created: 15 Oct 2025, 2:48 p.m.
Last Modified: 15 Oct 2025, 2:48 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 25042156 - 1 case 100K cohort has a research case PMID: 25424902 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • RPL31 associated Diamond-Blackfan anaemia
Tags
special_consideration condition_removed
OMIM
617415
Clinvar variants
Variants in RPL31
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

15 Oct 2025, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: RPL31. Tag condition_removed tag was added to gene: RPL31.

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RPL31 were changed from RPL31 associated Diamond-Blackfan anemia to RPL31 associated Diamond-Blackfan anaemia

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes RPL31 associated Diamond-Blackfan anemia for gene: RPL31

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RPL31. Added phenotypes RPL31 associated Diamond-Blackfan anemia for gene: RPL31 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RPL31. Added phenotypes RPL31 associated Diamond-Blackfan anemia for gene: RPL31 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RPL31. Added phenotypes RPL31 associated Diamond-Blackfan anemia for gene: RPL31 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RPL31 was added gene: RPL31 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown