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  3. RPS17
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Anaemias and red cell disorders

Gene: RPS17

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

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

4 independent cases in the 4 reports. 2 abolish start codon, 1 CNV. All with Diamond-Blackfan anaemia.
Created: 16 Feb 2017, 4:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Diamond-Blackfan anemia 4 612527

Publications

Created: 16 Feb 2017, 4:47 p.m.

Panel version: 0.25

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
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 4, 612527
  • Diamond_Blackfan Anemia 4
  • DIAMOND-BLACKFAN ANEMIA 4
OMIM
180472
Clinvar variants
Variants in RPS17
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 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)

RPS17 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPS17 was created by ellenmcdonagh