Cytopenias and congenital anaemias
Gene: RPS24Added 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.
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 RPS24 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for RPS24 were set to 17186470; 25946618; 2210388; 19773262; 8647458; 19689926
RPS24 was created by LouiseD
RPS24 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services