Radial dysplasia
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.
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for RPS24 were set to Diamond-Blackfan anemia 3, 610629; upper limb malformation
This gene has been classified as Green List (High Evidence).
Publications for RPS24 were set to 17186470; 2210388; 19773262; 8647458; 19689926
This gene has been classified as Green List (High Evidence).
RPS24 was added to Radial dysplasiapanel. Sources: Expert list
RPS24 was created by rfoulger
RPS24 was added to Radial dysplasiapanel. Sources: Other