Cytopenias and congenital anaemias
Gene: RPS7Comment when marking as ready: Relevant phenotype plus sufficient cases to support causation.Created: 9 Mar 2017, 9:49 a.m.
Comment on list classification: Kept rating as Green: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. >3 cases supporting causation in OMIM plus literature.Created: 9 Mar 2017, 9:49 a.m.
2 splice variants (3 patients with Diamond-Blackfan anemia) reported in OMIM (PMID:19061985, PMID:27882484, PMID:23718193). Further splice variants reported in 3 unrelated cases (1 sporadic, 2 familial) in the Russian population in PMID:25946618.Created: 9 Mar 2017, 9:48 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.
Mode of inheritance for RPS7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for RPS7 were set to 25946618; 19061985; 23718193; 27882484
RPS7 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
RPS7 was created by LouiseD