Cytopenia - NOT Fanconi anaemia
Gene: RPL27
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, 1:51 p.m. | Last Modified: 7 Feb 2023, 1:51 p.m.
Panel Version: 2.4
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, 11:22 p.m. | Last Modified: 5 Oct 2022, 11:22 p.m.
Panel Version: 1.72
This gene has been tagged with: "Q2_21_expert_review" in order to seek the opinion of NHS experts in regards to the recent Red review by Zornitza Stark, highlighting that there has only been one reported case to date (PMID:25424902). This gene was previously classified Green based on discussion with the GMS Specialist Test Group - despite the typical inclusion criteria indicating this gene would be rated Red or Amber (some supportive functional data) based on available published evidence.
RPL27 is also rated Green on the 'Haematological malignancies cancer susceptibility' and 'Rare anaemia' GMS panels on the same basis.Created: 31 Mar 2021, 12:55 p.m. | Last Modified: 31 Mar 2021, 12:55 p.m.
Panel Version: 1.36
Single affected individual reported only, no additional reports in ClinVar.Created: 5 Mar 2021, 10:01 a.m. | Last Modified: 5 Mar 2021, 10:01 a.m.
Panel Version: 1.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 16, MIM# 617408
Publications
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.Created: 22 Jul 2019, 1:45 p.m. | Last Modified: 22 Jul 2019, 1:45 p.m.
Panel Version: 0.90
New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.Created: 4 May 2019, 8:55 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: RPL27; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 16, 617408; PMID(s): 25424902Created: 6 Feb 2019, 3:13 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, 3:12 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Gene: rpl27 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating was removed from gene: RPL27. Tag Q3_22_expert_review was removed from gene: RPL27.
Tag Q2_21_expert_review was removed from gene: RPL27. Tag Q3_22_rating tag was added to gene: RPL27. Tag Q3_22_expert_review tag was added to gene: RPL27.
Tag Q2_21_expert_review tag was added to gene: RPL27.
Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: rpl27 has been classified as Green List (High Evidence).
Source London South GLH was added to RPL27.
Source NHS GMS was added to RPL27.
Source Expert Review Green was added to RPL27. Mode of inheritance for gene RPL27 was changed from to Unknown Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408 for gene: RPL27 Publications for gene RPL27 were changed from to 25424902 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RPL27 was added gene: RPL27 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL27 was set to