1. Panels
  2. Congenital anaemias
  3. RPS19
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Congenital anaemias

Gene: RPS19

Green List (high evidence)
RPS19 (ribosomal protein S19)
EnsemblGeneIds (GRCh38): ENSG00000105372
EnsemblGeneIds (GRCh37): ENSG00000105372
OMIM: 603474, Gene2Phenotype
RPS19 is in 11 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 1, 105650
  • Diamond Blackfan anemia
OMIM
603474
Clinvar variants
Variants in RPS19
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS19 was added to Congenital anaemiaspanel. Source: Expert list

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS19 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS19 was added to Congenital anaemiaspanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS19 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

RPS19 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

RPS19 was added to Congenital anaemiaspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RPS19 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services