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Newborns main panel

Gene: RPS26

Green List (high evidence)
RPS26 (ribosomal protein S26)
EnsemblGeneIds (GRCh38): ENSG00000197728
EnsemblGeneIds (GRCh37): ENSG00000197728
OMIM: 603701, Gene2Phenotype
RPS26 is in 10 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
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia - PubMed (nih.gov)
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 10
OMIM
603701
Clinvar variants
Variants in RPS26
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RPS26 were changed from Diamond-Blackfan anemia 10 to Diamond-Blackfan anaemia 10

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 10 for gene: RPS26

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 10 for gene: RPS26

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 10 for gene: RPS26

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 RPS26. Added phenotypes Diamond-Blackfan anemia 10 for gene: RPS26 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RPS26. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 10 for gene: RPS26

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RPS26 was added gene: RPS26 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown