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Rare anaemia v0.28 | SLC19A2 | Louise Daugherty commented on gene: SLC19A2: 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: SLC19A2; 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: Thiamine-Responsive Megaloblastic Anemia syndrome 249270; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.27 | SLC19A2 | Steve Keeney reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.26 | SLC19A2 | Louise Daugherty Added phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 for gene: SLC19A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.22 | SLC19A2 | Louise Daugherty Source North West GLH was added to SLC19A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.17 | SLC19A2 | Louise Daugherty commented on gene: SLC19A2: 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: SLC19A2; 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: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.16 | SLC19A2 | Mandy nesbitt reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.15 | SLC19A2 | Louise Daugherty Added phenotypes 249270 Thiamine-Responsive Megaloblastic Anemia syndrome for gene: SLC19A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.13 | SLC19A2 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC19A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.11 | SLC19A2 | Louise Daugherty commented on gene: SLC19A2: 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: SLC19A2; 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: 249270 Thiamine-responsive megaloblastic anemia syndrome; PMID(s): 10391221; 10978358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.11 | SLC19A2 | Louise Daugherty commented on gene: SLC19A2: 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: SLC19A2; 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: 249270 Thiamine-responsive megaloblastic anemia syndrome; PMID(s): 10391221; 10978358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.10 | SLC19A2 | Frances Smith edited their review of gene: SLC19A2: Added comment: 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.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.10 | SLC19A2 | Frances Smith reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391221, 10978358; Phenotypes: 249270 Thiamine-responsive megaloblastic anemia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.9 | SLC19A2 | Louise Daugherty Added phenotypes 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.9 | SLC19A2 |
Louise Daugherty Added phenotypes 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2 Publications for gene SLC19A2 were changed from 10391221 to 10978358; 10391221 |
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Rare anaemia v0.7 | SLC19A2 | Louise Daugherty Source London South GLH was added to SLC19A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.6 | SLC19A2 | Louise Daugherty reviewed gene: SLC19A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.5 | SLC19A2 | Carl Fratter reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.4 | SLC19A2 | Louise Daugherty Source NHS GMS was added to SLC19A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.3 | SLC19A2 |
Louise Daugherty Source Expert Review Green was added to SLC19A2. Mode of inheritance for gene SLC19A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 for gene: SLC19A2 Publications for gene SLC19A2 were changed from to 10391221 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Rare anaemia v0.2 | SLC19A2 |
Louise Daugherty gene: SLC19A2 was added gene: SLC19A2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC19A2 was set to |