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Limb disorders

Gene: RPS29

Red List (low evidence)

RPS29 (ribosomal protein S29)
EnsemblGeneIds (GRCh38): ENSG00000213741
EnsemblGeneIds (GRCh37): ENSG00000213741
OMIM: 603633, Gene2Phenotype
RPS29 is in 7 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per reviews. Two cases to date and phenotype considered appropriate for inclusion as DBA as a whole is part of the broader differential for radial dysplasia. Watchlist based upon current evidence.
Created: 11 May 2017, 1:44 p.m.

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM, not in G2P. At 2 least variants reported in two families, both displaying incomplete penetrance
Created: 9 Mar 2017, 4:32 p.m.

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

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

Rebecca Foulger (Genomics England curator)

Although the OMIM pages for Diamond-Blackfan anemia 1/RPS29 don't mention upper limb abnormalities, I have included RPS29 in the panel because it's part of a phenotypic series for Diamond-Blackfan anemia, and most other entries in the series include some upper limb malformation information.
Created: 18 Oct 2016, 1:22 p.m.

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Although the OMIM pages for Di

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS29 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RPS29 was created by Ellen McDonagh