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Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram Deleted their review
Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram Classified gene: RPS27 as Amber List (moderate evidence)
Rare anaemia v2.5 RPS27 Achchuthan Shanmugasundram Gene: rps27 has been classified as Amber List (Moderate Evidence).
Rare anaemia v2.4 RPS27 Achchuthan Shanmugasundram Deleted their comment
Rare anaemia v2.3 RPS27 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPS27.
Tag Q3_22_expert_review was removed from gene: RPS27.
Rare anaemia v2.3 RPS27 Achchuthan Shanmugasundram reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v1.42 RPS27 Eleanor Williams commented on gene: RPS27
Rare anaemia v1.42 RPS27 Eleanor Williams 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.
Rare anaemia v1.27 RPS27 Arina Puzriakova commented on gene: RPS27
Rare anaemia v1.27 RPS27 Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: RPS27.
Rare anaemia v1.27 RPS27 Arina Puzriakova 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
Rare anaemia v1.26 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.28 RPS27 Louise Daugherty commented on gene: RPS27: 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 submitted
Rare anaemia v0.27 RPS27 Steve Keeney reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia, ?Diamond-Blackfan anemia 17, 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.26 RPS27 Louise Daugherty Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27
Rare anaemia v0.22 RPS27 Louise Daugherty Source North West GLH was added to RPS27.
Rare anaemia v0.17 RPS27 Louise Daugherty commented on gene: RPS27: 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 submitted
Rare anaemia v0.16 RPS27 Mandy nesbitt reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.15 RPS27 Louise Daugherty Added phenotypes 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27
Rare anaemia v0.13 RPS27 Louise Daugherty Source Yorkshire and North East GLH was added to RPS27.
Rare anaemia v0.6 RPS27 Louise Daugherty reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 RPS27 Carl Fratter reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.4 RPS27 Louise Daugherty Source NHS GMS was added to RPS27.
Rare anaemia v0.3 RPS27 Louise Daugherty 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)
Rare anaemia v0.2 RPS27 Louise Daugherty 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