Radial dysplasia
Gene: RPS19Comment 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.
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for RPS19 were set to Diamond-Blackfan anemia 1, 105650; Mild radial hypoplasia; Hypoplastic thumbs; Absent thumbs; Triphalangeal thumbs
This gene has been classified as Green List (High Evidence).
Publications for RPS19 were set to 1746615; 9988267; 15384984
This gene has been classified as Green List (High Evidence).
RPS19 was added to Radial dysplasiapanel. Sources: Expert list
RPS19 was created by rfoulger
RPS19 was added to Radial dysplasiapanel. Sources: Other