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Severe Paediatric Disorders

Gene: RPS15

Red List (low evidence)

RPS15 (ribosomal protein S15)
EnsemblGeneIds (GRCh38): ENSG00000115268
EnsemblGeneIds (GRCh37): ENSG00000115268
OMIM: 180535, Gene2Phenotype
RPS15 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RPS15; Recommended initial gene rating: Red List (low evidence); Phenotypes: Polyglucosan body myopathy, early-onset, with or without immunodeficiency; Mode of inheritance:
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
Phenotypes
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency
OMIM
180535
Clinvar variants
Variants in RPS15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RPS15 were updated from to 30847515

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15