Activity
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17 actions
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| Rare anaemia v0.28 | SPTB | Louise Daugherty commented on gene: SPTB: 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: SPTB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis,616649;Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | SPTB | Steve Keeney reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Spherocytosis,616649, Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | SPTB | Louise Daugherty Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | SPTB | Louise Daugherty Source North West GLH was added to SPTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | SPTB | Louise Daugherty commented on gene: SPTB: 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: SPTB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | SPTB | Mandy nesbitt reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | SPTB | Louise Daugherty Added phenotypes 616649 Anemia, neonatal hemolytic, fatal and near-fatal for gene: SPTB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | SPTB | Louise Daugherty Source Yorkshire and North East GLH was added to SPTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | SPTB | Louise Daugherty commented on gene: SPTB: 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: SPTB; 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: 616649 Spherocytosis, type 2;617948 Elliptocytosis-3; PMID(s): 8226774; 3276733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | SPTB | Frances Smith reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8226774, 3276733; Phenotypes: 616649 Spherocytosis, type 2, 617948 Elliptocytosis-3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | SPTB |
Louise Daugherty Added phenotypes 617948 Elliptocytosis-3; 616649 Spherocytosis, type 2 for gene: SPTB Publications for gene SPTB were changed from 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 to 3276733; 8226774 |
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| Rare anaemia v0.7 | SPTB | Louise Daugherty Source London South GLH was added to SPTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | SPTB | Louise Daugherty reviewed gene: SPTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | SPTB | Carl Fratter reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | SPTB | Louise Daugherty Source NHS GMS was added to SPTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | SPTB |
Louise Daugherty Source Expert Review Green was added to SPTB. Mode of inheritance for gene SPTB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB Publications for gene SPTB were changed from to 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | SPTB |
Louise Daugherty gene: SPTB was added gene: SPTB was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SPTB was set to |
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