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  3. RPS27
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Non-Fanconi anaemia

Gene: RPS27

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

2 reviews

Mark Greenslade (Bristol Genetics Laboratory)

I don't know

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: 1 variant in 1 patient reported (PMID:25424902, Wang et al., 2015) for Diamond-Blackfan anemia 17, 617409.
Created: 2 May 2017, 2:08 p.m.
Created: 2 May 2017, 2:08 p.m.

Panel version: 0.243

Details

Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Diamond-Blackfan anemia 17, 617409
OMIM
603702
Clinvar variants
Variants in RPS27
Penetrance
Complete
Panels with this gene

History Filter Activity

2 May 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

2 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RPS27 were set to ?Diamond-Blackfan anemia 17, 617409

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS27 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS27 was added to Non-Fanconi anaemiapanel. Source: UKGTN

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS27 was added to Non-Fanconi anaemiapanel. Sources: UKGTN