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Limb disorders

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.
Created: 11 May 2017, 1:32 p.m.

Panel version: Imported from Radial dysplasia panel version 0.125

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.
Created: 9 Mar 2017, 9:58 a.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version 0.435

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, 3:46 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 6, 612561
  • Radial Ray abnormality
  • thumb abnormalities
OMIM
603634
Clinvar variants
Variants in RPL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Comment on list classification

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to RPL5. Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 6, 612561; thumb abnormalities for gene: RPL5 Publications for gene RPL5 were changed from to 19191325; 19061985

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL5 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RPL5 was created by Ellen McDonagh