Limb disordersGene: RPS19
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, 1:38 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, 10:11 a.m.
Comment on list classification: Kept rating as Green: >3 cases supporting causation for Diamond blackfan anemia. Confirmed DD-G2P gene for Diamond Blaclkfan anemia.
Created: 9 Mar 2017, 10:10 a.m.
Rebecca Foulger: Comment on list classification
Source Expert Review Green was added to RPS19. Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 1, 105650; Triphalangeal thumbs; Hypoplastic thumbs; Mild radial hypoplasia; Absent thumbs for gene: RPS19 Publications for gene RPS19 were changed from to 15384984; 9988267; 1746615
RPS19 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPS19 was created by Ellen McDonagh