Cytopenias and congenital anaemias
Gene: RPS26Comment 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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for RPS26 were set to 20116044; 24942156; 24675553; 25946618
RPS26 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
RPS26 was created by LouiseD