Rare anaemia
Gene: RPS27
The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. The GMS reviewers note that this gene should be demoted to amber as there is only one case, but supported by functional studies and mutation of multiple other ribosomal genes results in the same phenotype.Created: 7 Feb 2023, 1:56 p.m. | Last Modified: 7 Feb 2023, 1:56 p.m.
Panel Version: 2.5
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 10:52 p.m. | Last Modified: 5 Oct 2022, 10:52 p.m.
Panel Version: 1.42
This gene will be flagged for GMS expert review to determine whether it should be demoted from Green as only a single individual has been reported in the literature to date.Created: 1 Oct 2021, 10:25 a.m. | Last Modified: 1 Oct 2021, 10:25 a.m.
Panel Version: 1.27
Single individual reported.Created: 16 Sep 2021, 8:15 a.m. | Last Modified: 16 Sep 2021, 8:15 a.m.
Panel Version: 1.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 17, MIM# 617409
Publications
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 4:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
617409 ?Diamond-Blackfan anemia 17,
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 17, 617409; PMID(s): none submittedCreated: 18 Feb 2019, 2:28 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 17, 617409; PMID(s): 23718193;25424902Created: 6 Feb 2019, 12:14 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 12:13 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Gene: rps27 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating was removed from gene: RPS27. Tag Q3_22_expert_review was removed from gene: RPS27.
Tag Q3_21_expert_review was removed from gene: RPS27. Tag Q3_22_rating tag was added to gene: RPS27. Tag Q3_22_expert_review tag was added to gene: RPS27.
Tag Q3_21_expert_review tag was added to gene: RPS27.
Phenotypes for gene: RPS27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17, to ?Diamond-Blackfan anemia 17, OMIM:617409
Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27
Source North West GLH was added to RPS27.
Added phenotypes 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27
Source Yorkshire and North East GLH was added to RPS27.
Source NHS GMS was added to RPS27.
Source Expert Review Green was added to RPS27. Mode of inheritance for gene RPS27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27 Publications for gene RPS27 were changed from to 23718193; 25424902 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RPS27 was added gene: RPS27 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS27 was set to