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  2. Anaemias and red cell disorders
  3. RPS26
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Anaemias and red cell disorders

Gene: RPS26

Green List (high evidence)
RPS26 (ribosomal protein S26)
EnsemblGeneIds (GRCh38): ENSG00000197728
EnsemblGeneIds (GRCh37): ENSG00000197728
OMIM: 603701, Gene2Phenotype
RPS26 is in 10 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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond_Blackfan Anemia 10
  • Diamond-Blackfan anemia 10
OMIM
603701
Clinvar variants
Variants in RPS26
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

22 Jul 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services RPS26 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPS26 was created by ellenmcdonagh