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Newborns main panel

Gene: RPS9

Amber List (moderate evidence)
RPS9 (ribosomal protein S9)
EnsemblGeneIds (GRCh38): ENSG00000170889
EnsemblGeneIds (GRCh37): ENSG00000170889
OMIM: 603631, Gene2Phenotype
RPS9 is in 0 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
https://ashpublications.org/blood/article/134/Supplement_1/2502/423043/Whole-Genome-Sequencing-Identifies-Small-Deletions
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
  • RPS9 associated Diamond-Blackfan anaemia
OMIM
603631
Clinvar variants
Variants in RPS9
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RPS9 were changed from RPS9 associated Diamond-Blackfan anemia to RPS9 associated Diamond-Blackfan anaemia

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 RPS9. Added phenotypes RPS9 associated Diamond-Blackfan anemia for gene: RPS9 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 RPS9. Added phenotypes RPS9 associated Diamond-Blackfan anemia for gene: RPS9 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 RPS9. Added phenotypes RPS9 associated Diamond-Blackfan anemia for gene: RPS9 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: RPS9 was added gene: RPS9 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: RPS9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS9 were set to RPS9 associated Diamond-Blackfan anemia