Radial dysplasia
Gene: RPL11Comment 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, 1:24 p.m.
Comment when marking as ready: Relevant phenotype plus sufficient cases (from multiple populations) to support causation.Created: 9 Mar 2017, 9:52 a.m.
Comment on list classification: Kept rating as Green: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. >3 cases supporting causation in OMIM and literature.Created: 9 Mar 2017, 9:52 a.m.
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for RPL11 were set to Diamond-Blackfan anemia 7, 612562; thumb abnormalities; hypoplastic thumb
This gene has been classified as Green List (High Evidence).
Publications for RPL11 were set to 19061985; 19191325
This gene has been classified as Green List (High Evidence).
RPL11 was added to Radial dysplasiapanel. Sources: Expert list
RPL11 was created by rfoulger
RPL11 was added to Radial dysplasiapanel. Sources: Other