Limb disorders
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
Rebecca Foulger: Doherty et al. (2010, PMID:201
Source Expert Review Green was added to RPS10. Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 9, 613308; upper limb malformation for gene: RPS10 Publications for gene RPS10 were changed from to 20116044
RPS10 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPS10 was created by Ellen McDonagh