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Newborns main panel

Gene: RPL26

Green List (high evidence)
RPL26 (ribosomal protein L26)
EnsemblGeneIds (GRCh38): ENSG00000161970
EnsemblGeneIds (GRCh37): ENSG00000161970
OMIM: 603704, Gene2Phenotype
RPL26 is in 9 panels

1 review

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: 37073646 - 1 case PMID: 22431104 - 1 case PMID: 20116044 - 12 cases
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 Green
Phenotypes
  • Diamond-Blackfan anaemia 11
OMIM
603704
Clinvar variants
Variants in RPL26
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to RPL26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11 to Diamond-Blackfan anaemia 11

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RPL26. Added phenotypes Diamond-Blackfan anemia 11 for gene: RPL26 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 11 for gene: RPL26

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 11 for gene: RPL26

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 RPL26. Added phenotypes Diamond-Blackfan anemia 11 for gene: RPL26 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: RPL26 was added gene: RPL26 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown