Radial dysplasia

Gene: RPL5

Green List (high evidence)

RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 9 panels

3 reviews

Helen Brittain (Genomics England Curator)

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, 1:32 p.m.

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Relevant phenotype for panel and sufficient cases to support causation.
Created: 9 Mar 2017, 10:02 a.m.
Comment on list classification: Kept rating as Green: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. >3 cases supporting causation in OMIM. Plus PMID:25946618 identify mutations in the RPL5 gene in six further probands- five of them were sporadic, one familial.
Created: 9 Mar 2017, 9:58 a.m.

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
  • Expert list
  • Other
Phenotypes
  • Diamond-Blackfan anemia 6, 612561
  • thumb abnormalities
OMIM
603634
Clinvar variants
Variants in RPL5
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.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RPL5 were set to Diamond-Blackfan anemia 6, 612561; thumb abnormalities

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 publications

Helen Brittain (Genomics England Curator)

Publications for RPL5 were set to 19061985; 19191325

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).

6 Dec 2016, Gel status: 0

Upload gene information

Rebecca Foulger (Genomics England curator)

RPL5 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RPL5 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RPL5 was added to Radial dysplasiapanel. Sources: Other