Rare anaemia
Gene: TPI1
Gene rating submitted 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.Created: 18 Feb 2019, 2:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615512 Hemolytic anemia due to triosephosphate isomerase deficiency
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
615512 Hemolytic anemia due to triosephosphate isomerase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: TPI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder; PMID(s): none submittedCreated: 18 Feb 2019, 2:28 p.m.
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: TPI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
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: TPI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; PMID(s): 11698297; 9338582Created: 8 Feb 2019, 3:49 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: TPI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder; PMID(s): 10910933;17879449;10910933;20374271;7485100Created: 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.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1
Source North West GLH was added to TPI1.
Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1
Source Yorkshire and North East GLH was added to TPI1.
Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1 Publications for gene TPI1 were changed from 10910933; 17879449; 20374271; 7485100 to 9338582; 11698297
Source London South GLH was added to TPI1.
Source NHS GMS was added to TPI1.
Source Expert Review Green was added to TPI1. Mode of inheritance for gene TPI1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1 Publications for gene TPI1 were changed from to 10910933; 17879449; 20374271; 7485100 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TPI1 was added gene: TPI1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TPI1 was set to