Radial dysplasia

Gene: RPS17

Green List (high 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)

Comment when marking as ready: Diamond-Blackfan anaemia is associated with congenital malformations in approx. 50%. Approximately 38% with upper limb abnormality (inc. triphalangeal, bifid, duplex, hypoplastic or absent thumbs). Therefore considered appropriate for inclusion in the broad differential of radial ray disorders.
Created: 11 May 2017, 1:37 p.m.
Comment when marking as ready: Sufficient evidence for causation. Relevant phenotype
Created: 28 Feb 2017, 1:59 p.m.
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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Diamond-Blackfan anemia 4, 612527
OMIM
180472
Clinvar variants
Variants in RPS17
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for RPS17 were set to Diamond-Blackfan anemia 4, 612527

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for RPS17 were set to 17647292; 19061985; 19953637; 22045982

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RPS17 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RPS17 was added to Radial dysplasiapanel. Sources: Other