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Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram Deleted their review
Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram Classified gene: RPL27 as Amber List (moderate evidence)
Rare anaemia v2.4 RPL27 Achchuthan Shanmugasundram Gene: rpl27 has been classified as Amber List (Moderate Evidence).
Rare anaemia v2.3 RPL27 Achchuthan Shanmugasundram Deleted their comment
Rare anaemia v2.3 RPL27 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPL27.
Tag Q3_22_expert_review was removed from gene: RPL27.
Rare anaemia v2.3 RPL27 Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v1.42 RPL27 Eleanor Williams commented on gene: RPL27
Rare anaemia v1.42 RPL27 Eleanor Williams Tag Q3_22_rating tag was added to gene: RPL27.
Tag Q3_22_expert_review tag was added to gene: RPL27.
Rare anaemia v0.49 RPL27 Louise Daugherty Classified gene: RPL27 as Green List (high evidence)
Rare anaemia v0.49 RPL27 Louise Daugherty Added comment: 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.
Rare anaemia v0.49 RPL27 Louise Daugherty Gene: rpl27 has been classified as Green List (High Evidence).
Rare anaemia v0.34 RPL27 Louise Daugherty commented on gene: RPL27: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Rare anaemia v0.33 RPL27 Frances Smith edited their review of gene: RPL27: Changed rating: GREEN
Rare anaemia v0.30 RPL27 Louise Daugherty Deleted their comment
Rare anaemia v0.30 RPL27 Louise Daugherty Added comment: Comment on phenotypes: Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Rare anaemia v0.30 RPL27 Louise Daugherty Phenotypes for gene: RPL27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408; 617408 ?Diamond-Blackfan anemia 16 to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Rare anaemia v0.29 RPL27 Louise Daugherty Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.11 RPL27 Louise Daugherty commented on gene: RPL27: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL27; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617408 ?Diamond-Blackfan anemia 16; PMID(s): 25424902
Rare anaemia v0.10 RPL27 Frances Smith reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: ; Publications: 25424902; Phenotypes: 617408 ?Diamond-Blackfan anemia 16; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.9 RPL27 Louise Daugherty Added phenotypes 617408 ?Diamond-Blackfan anemia 16 for gene: RPL27
Rare anaemia v0.7 RPL27 Louise Daugherty Source London South GLH was added to RPL27.
Rare anaemia v0.6 RPL27 Louise Daugherty reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 RPL27 Carl Fratter reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.4 RPL27 Louise Daugherty Source NHS GMS was added to RPL27.
Rare anaemia v0.3 RPL27 Louise Daugherty 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)
Rare anaemia v0.2 RPL27 Louise Daugherty gene: RPL27 was added
gene: RPL27 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RPL27 was set to