Cytopenia - NOT Fanconi anaemia
Gene: RPS19
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, 1:54 p.m. | Last Modified: 22 Jul 2019, 1:54 p.m.
Panel Version: 0.98
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: RPS19; 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, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1; PMID(s): 24675553;25946618;9988267;15384984Created: 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: rps19 has been classified as Green List (High Evidence).
Source London South GLH was added to RPS19.
Source NHS GMS was added to RPS19.
Source Expert Review Green was added to RPS19. Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond_Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS19 Publications for gene RPS19 were changed from to 25946618; 24675553; 15384984; 9988267 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RPS19 was added gene: RPS19 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS19 was set to