| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare anaemia v0.28 | TPI1 | Louise Daugherty commented on gene: TPI1: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | TPI1 | Steve Keeney reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512, Enzyme Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | TPI1 | Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | TPI1 | Louise Daugherty Source North West GLH was added to TPI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | TPI1 | Louise Daugherty commented on gene: TPI1: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | TPI1 | Mandy nesbitt reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | TPI1 | Louise Daugherty Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | TPI1 | Louise Daugherty Source Yorkshire and North East GLH was added to TPI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | TPI1 | Louise Daugherty commented on gene: TPI1: 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; 9338582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | TPI1 | Frances Smith reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11698297, 9338582; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | TPI1 |
Louise Daugherty 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | TPI1 | Louise Daugherty Source London South GLH was added to TPI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | TPI1 | Louise Daugherty reviewed gene: TPI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | TPI1 | Carl Fratter reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | TPI1 | Louise Daugherty Source NHS GMS was added to TPI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | TPI1 |
Louise Daugherty 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.2 | TPI1 |
Louise Daugherty 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||