Limb disorders
Gene: RPS24Comment 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, 1:40 p.m.
Added the 'deletions' tag based on the 5,134-bp deletion reported in PMID:23812780.Created: 9 Mar 2017, 10:16 a.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, 10:07 a.m.
Comment on list classification: Kept rating as Green: >3 cases supporting causation from OMIM and literature.Created: 9 Mar 2017, 10:07 a.m.
4 cases on OMIM supporting causation of Diamond-Blackfan anemia, including a sporadic case and insertions/deletions. With at least 1 further case from the literature (PMID:25946618).Created: 9 Mar 2017, 10:06 a.m.
Rebecca Foulger: 4 cases on OMIM supporting cau
Source Expert Review Green was added to RPS24. Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 3, 610629; upper limb malformation for gene: RPS24 Publications for gene RPS24 were changed from to 17186470; 2210388; 8647458; 19689926; 19773262
RPS24 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPS24 was created by Ellen McDonagh