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Haematological malignancies cancer susceptibility

Gene: RPL27

Red List (low evidence)
RPL27 (ribosomal protein L27)
EnsemblGeneIds (GRCh38): ENSG00000131469
EnsemblGeneIds (GRCh37): ENSG00000131469
OMIM: 607526, Gene2Phenotype
RPL27 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 11:21 a.m. | Last Modified: 30 Jan 2023, 11:21 a.m.
Panel Version: 3.3
Created: 30 Jan 2023, 11:21 a.m.
Last Modified: 30 Jan 2023, 11:21 a.m.
Panel version: 3.3

Eleanor Williams (Genomics England Curator)

Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report.
See review on the 'Cytopenia - NOT Fanconi anaemia' panel https://panelapp.genomicsengland.co.uk/panels/519/gene/RPL27/ indicating there has only been 1 reported case to date.
Created: 5 Oct 2022, 11:26 p.m. | Last Modified: 5 Oct 2022, 11:26 p.m.
Panel Version: 2.36
Created: 5 Oct 2022, 11:26 p.m.
Last Modified: 5 Oct 2022, 11:26 p.m.
Panel version: 2.36

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 Red
  • NHS GMS
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
OMIM
607526
Clinvar variants
Variants in RPL27
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 1

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: RPL27. Tag Q3_22_expert_review was removed from gene: RPL27.

30 Jan 2023, Gel status: 1

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to RPL27. Source Expert Review Red was added to RPL27. Rating Changed from Green List (high evidence) to Red List (low evidence)

5 Oct 2022, Gel status: 3

Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: RPL27. Tag Q3_22_expert_review tag was added to gene: RPL27.

7 Sep 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

30 Jan 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to RPL27. Panel: Haematological malignancies pertinent cancer susceptibility

21 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPL27 was created by ellenmcdonagh

21 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL27 was added to Haematological malignanciespanel. Sources: Curated sources