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Newborns main panel

Gene: RPS10

Green List (high evidence)
RPS10 (ribosomal protein S10)
EnsemblGeneIds (GRCh38): ENSG00000124614
EnsemblGeneIds (GRCh37): ENSG00000124614
OMIM: 603632, Gene2Phenotype
RPS10 is in 8 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: 20116044 - three distinct mutations of RPS10 in five probands. PMID: 25946618 - 3 probands in RPS10. PMID: 22510774 - 1 case PMID: 23718193 - 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 Green
Phenotypes
  • Diamond-Blackfan anaemia 9
OMIM
603632
Clinvar variants
Variants in RPS10
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: RPS10 were changed from Diamond-Blackfan anemia 9 to Diamond-Blackfan anaemia 9

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 9 for gene: RPS10

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 9 for gene: RPS10

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond-Blackfan anemia 9 for gene: RPS10

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 RPS10. Added phenotypes Diamond-Blackfan anemia 9 for gene: RPS10 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: RPS10 was added gene: RPS10 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown