Limb disordersGene: RPS26
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, 1:41 p.m.
Comment when marking as ready: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel, and >3 cases supporting causation.
Created: 9 Mar 2017, 10:09 a.m.
Comment on list classification: Kept rating as Green: Plenty of cases supporting causation of Diamond-Blackfan anemia, with multiple variants (many cases from PMID: 20116044). Phenotype is relevant for the panel.
Created: 9 Mar 2017, 10:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Diamond Blackfan Anaemia (DBA)
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Foulger: Comment on list classification
Source Expert Review Green was added to RPS26. Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 10, 613309; upper limb malformation for gene: RPS26 Publications for gene RPS26 were changed from to 20116044
RPS26 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPS26 was created by Ellen McDonagh