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Newborns main panel

Gene: RPSA

Green List (high evidence)
RPSA (ribosomal protein SA)
EnsemblGeneIds (GRCh38): ENSG00000168028
EnsemblGeneIds (GRCh37): ENSG00000168028
OMIM: 150370, Gene2Phenotype
RPSA is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 30072435, PMID: 23579497
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Asplenia, isolated congenital
OMIM
150370
Clinvar variants
Variants in RPSA
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: RPSA was added gene: RPSA was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: RPSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPSA were set to Asplenia, isolated congenital