Radial dysplasia
Gene: RPS10Comment 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, 1:34 p.m.
Comment when marking as ready: Relevant phenotype, confirmed mode-of-inheritance, and sufficient cases.Created: 9 Mar 2017, 9:32 a.m.
Comment on list classification: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. >3 cases supporting causation in OMIM plus literature.Created: 9 Mar 2017, 9:32 a.m.
Doherty et al. (2010, PMID:20116044) sequenced 35 ribosomal protein genes in a cohort of 117 patients with Diamond-Blackfan anemia, and identified 3 mutations in the RPS10 gene in 5 patients. Additional cases in the Russian population from PMID:25946618.Created: 9 Mar 2017, 9:31 a.m.
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for RPS10 were set to Diamond-Blackfan anemia 9, 613308; upper limb malformation
This gene has been classified as Green List (High Evidence).
Publications for RPS10 were set to 20116044
This gene has been classified as Green List (High Evidence).
RPS10 was added to Radial dysplasiapanel. Sources: Expert list
RPS10 was created by rfoulger
RPS10 was added to Radial dysplasiapanel. Sources: Other