Limb disorders
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.
Rebecca Foulger: Comment on list classification
Source Expert Review Green was added to RPL11. Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 7, 612562; hypoplastic thumb; thumb abnormalities for gene: RPL11 Publications for gene RPL11 were changed from to 19191325; 19061985
RPL11 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPL11 was created by Ellen McDonagh