Radial dysplasia
Gene: RPS26Comment 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, 1:41 p.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, 10:09 a.m.
Comment on list classification: Kept rating as Green: Plenty of cases supporting causation of Diamond-Blackfan anemia, with multiple variants (many cases from PMID: 20116044). Phenotype is relevant for the panel.Created: 9 Mar 2017, 10:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond Blackfan Anaemia (DBA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for RPS26 were set to Diamond-Blackfan anemia 10, 613309; upper limb malformation
This gene has been classified as Green List (High Evidence).
Publications for RPS26 were set to 20116044
This gene has been classified as Green List (High Evidence).
RPS26 was added to Radial dysplasiapanel. Sources: Expert list
RPS26 was created by rfoulger
RPS26 was added to Radial dysplasiapanel. Sources: Other