Rare anaemia
Gene: RPS28
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
606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis
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: RPS28; 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: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; 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: RPS28; 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: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164; PMID(s): 20301769;24942156Created: 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.
Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis for gene: RPS28
Source Yorkshire and North East GLH was added to RPS28.
Source NHS GMS was added to RPS28.
Source Expert Review Amber was added to RPS28. Mode of inheritance for gene RPS28 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28 Publications for gene RPS28 were changed from to 24942156; 20301769 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: RPS28 was added gene: RPS28 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS28 was set to