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  3. RPS27
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Haematological malignancies for rare disease

Gene: RPS27

Green List (high evidence)
RPS27 (ribosomal protein S27)
EnsemblGeneIds (GRCh38): ENSG00000177954
EnsemblGeneIds (GRCh37): ENSG00000177954
OMIM: 603702, Gene2Phenotype
RPS27 is in 5 panels

1 review

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: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • ?Diamond-Blackfan anemia 17, OMIM:617409
  • Class: BM failure syndrome (typ AR)
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
OMIM
603702
Clinvar variants
Variants in RPS27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RPS27 were changed from Class: BM failure syndrome (typ AR); Diamond Blackfan Anemia; MDS, AML; Osteosarcoma, soft tissue sarcomas to ?Diamond-Blackfan anemia 17, OMIM:617409; Class: BM failure syndrome (typ AR); MDS, AML; Osteosarcoma, soft tissue sarcomas

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS27 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

RPS27 was created by Ellen McDonagh