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Cytopenias and congenital anaemias

Gene: RPS27

Red List (low evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: New gene:disease association added in OMIM in March 2017: ?Diamond-Blackfan anemia 17, 617409 (1 patient only).
Created: 2 May 2017, 2:10 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or G2P. Single de novo splice variant reported in a 2 year old, diagnosed with Diamond-Blackfan anemia at birth. RT-PCR confirmed effect on splicing (PMID 25424902) .
Created: 7 Mar 2017, 4:57 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Diamond Blackfan Anaemia (DBA)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
  • ?Diamond-Blackfan anemia 17, 617409
OMIM
603702
Clinvar variants
Variants in RPS27
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

7 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RPS27 were set to 23718193; 25424902

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RPS27 were set to 23718193; 25424902; 20116044

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for RPS27 were set to 23718193; 25424902

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RPS27 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RPS27 was created by LouiseD