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  2. Early onset pancytopenia and red cell disorders
  3. RPS26
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Early onset pancytopenia 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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 10
  • Diamond-Blackfan anemia 10
OMIM
603701
Clinvar variants
Variants in RPS26
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS26 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list