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  3. RPS17
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Non-Fanconi anaemia

Gene: RPS17

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

3 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 4th May 2017.
Created: 4 May 2017, 1:43 p.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review plus >3 unrelated cases of RPS17 variants in Diamond-Blackfan anemia.
Created: 4 May 2017, 1:41 p.m.
Created: 4 May 2017, 1:41 p.m.

Panel version: 0.312

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anaemia 4

Created: 26 Jan 2016, 4:42 p.m.

Panel version: 0.228

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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

5 Jul 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RPS17 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Non-Fanconi anaemiapanel. Source: Expert list

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Non-Fanconi anaemiapanel. Source: UKGTN

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS17 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen