Cytopenias and congenital anaemias
Gene: RPL35AComment when marking as ready: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. Plus >3 cases supporting causation.Created: 9 Mar 2017, 10:05 a.m.
Comment on list classification: Kept rating as Green. 4 cases to support causation from OMIM and further literature.Created: 9 Mar 2017, 10:04 a.m.
3 cases reported in OMIM from PMID:18535205; in one case, the proband's father and sister also carried the variant and had symptoms consistent with subclinical DBA. Plus 1 further case in the Russian population from PMID:25946618.Created: 9 Mar 2017, 10:04 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 RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for RPL35A were set to 25946618; 18535205
RPL35A was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
RPL35A was created by LouiseD