Limb disorders
Gene: RPS29Comment 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.
Associated with phenotype in OMIM, not in G2P. At 2 least variants reported in two families, both displaying incomplete penetranceCreated: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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.
Rebecca Foulger: Although the OMIM pages for Di
RPS29 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPS29 was created by Ellen McDonagh