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  3. RPS27
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Anaemias and red cell disorders

Gene: RPS27

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

1 review

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

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

Details

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

History Filter Activity

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS27 was added to Anaemias and red cell disorderspanel. Sources: UKGTN

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPS27 was created by ellenmcdonagh