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  3. RPS27A
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Haematological malignancies cancer susceptibility

Gene: RPS27A

Green List (high evidence)
RPS27A (ribosomal protein S27a)
EnsemblGeneIds (GRCh38): ENSG00000143947
EnsemblGeneIds (GRCh37): ENSG00000143947
OMIM: 191343, Gene2Phenotype
RPS27A is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

RPS27a promotes the proliferation, regulates cell cycle progression and inhibits the effect of imatinib on apoptosis of CML cell lines (PMID 24680683)
Created: 5 Feb 2018, 11:35 a.m.

Publications

Created: 5 Feb 2018, 11:06 a.m.

Panel version: 0.17

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 26 Jul 2017, 11:15 a.m.

Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
Tags
watchlist pharmacogenetics gene-checked
OMIM
191343
Clinvar variants
Variants in RPS27A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: RPS27A.

4 Nov 2021, Gel status: 3

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag pharmacogenetic was removed from gene: RPS27A. Tag pharmacogenetics tag was added to gene: RPS27A.

7 Sep 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Sarah Leigh: RPS27a promotes the proliferat

5 Feb 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RPS27A were set to 28297620; 24680683; 26942564

30 Jan 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to RPS27A. Panel: Haematological malignancies pertinent cancer susceptibility

21 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPS27A was created by ellenmcdonagh

21 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS27A was added to Haematological malignanciespanel. Sources: Curated sources