Limb disordersGene: RPL5
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, 1:32 p.m.
Comment when marking as ready: Relevant phenotype for panel and sufficient cases to support causation.
Created: 9 Mar 2017, 10:02 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. Plus PMID:25946618 identify mutations in the RPL5 gene in six further probands- five of them were sporadic, one familial.
Created: 9 Mar 2017, 9:58 a.m.
Rebecca Foulger: Comment on list classification
Source Expert Review Green was added to RPL5. Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 6, 612561; thumb abnormalities for gene: RPL5 Publications for gene RPL5 were changed from to 19191325; 19061985
RPL5 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPL5 was created by Ellen McDonagh