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  2. Congenital anaemias
  3. RPS17
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Congenital anaemias

Gene: RPS17

Amber List (moderate evidence)
RPS17 (ribosomal protein S17)
EnsemblGeneIds (GRCh38): ENSG00000182774
EnsemblGeneIds (GRCh37): ENSG00000182774
OMIM: 180472, Gene2Phenotype
RPS17 is in 9 panels

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Details

Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia 4, 612527
  • Diamond Blackfan anemia
OMIM
180472
Clinvar variants
Variants in RPS17
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Congenital anaemiaspanel. Source: Expert list

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Congenital anaemiaspanel. Source: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

RPS17 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RPS17 was added to Congenital anaemiaspanel. Sources: UKGTN