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Rare anaemia v0.28 | SLC2A1 | Louise Daugherty commented on gene: SLC2A1: 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: SLC2A1; 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: Stomatocytosis; Pyridoxine-refractory sideroblastic anemia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.27 | SLC2A1 | Steve Keeney reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Pyridoxine-refractory sideroblastic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.26 | SLC2A1 | Louise Daugherty Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.22 | SLC2A1 | Louise Daugherty Source North West GLH was added to SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.17 | SLC2A1 | Louise Daugherty commented on gene: SLC2A1: 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: SLC2A1; 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, imprinted status unknown; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.16 | SLC2A1 | Mandy nesbitt reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.15 | SLC2A1 | Louise Daugherty Added phenotypes 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia for gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.13 | SLC2A1 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.11 | SLC2A1 | Louise Daugherty commented on gene: SLC2A1: 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: SLC2A1; 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: 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; PMID(s): 21791420; 22492876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.10 | SLC2A1 | Frances Smith reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21791420, 22492876; Phenotypes: 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.9 | SLC2A1 |
Louise Daugherty Added phenotypes 608885 Stomatin-deficient cryohydrocytosis with neurologic defects for gene: SLC2A1 Publications for gene SLC2A1 were changed from 22492876; 21791420; 15180870 to 22492876; 21791420 |
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Rare anaemia v0.7 | SLC2A1 | Louise Daugherty Source London South GLH was added to SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.6 | SLC2A1 | Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.5 | SLC2A1 | Carl Fratter reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.4 | SLC2A1 | Louise Daugherty Source NHS GMS was added to SLC2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.3 | SLC2A1 |
Louise Daugherty Source Expert Review Green was added to SLC2A1. Mode of inheritance for gene SLC2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1 Publications for gene SLC2A1 were changed from to 22492876; 21791420; 15180870 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Rare anaemia v0.2 | SLC2A1 |
Louise Daugherty gene: SLC2A1 was added gene: SLC2A1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC2A1 was set to |