Activity
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| Rare anaemia v0.28 | EPB41 | Louise Daugherty commented on gene: EPB41: 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: EPB41; 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: RBC membrane abnormality;Elliptocytosis;Elliptocytosis-1,611804;Hereditary elliptocytosis; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | EPB41 | Steve Keeney reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Elliptocytosis-1,611804, Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | EPB41 | Louise Daugherty Added phenotypes Elliptocytosis; Hereditary elliptocytosis; Elliptocytosis-1,611804; RBC membrane abnormality for gene: EPB41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | EPB41 | Louise Daugherty Source North West GLH was added to EPB41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | EPB41 | Louise Daugherty commented on gene: EPB41: 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: EPB41; Suggested intial 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: 611804 Hereditary elliptocytosis; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | EPB41 | Mandy nesbitt reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 611804 Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | EPB41 | Louise Daugherty Added phenotypes 611804 Hereditary elliptocytosis for gene: EPB41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | EPB41 | Louise Daugherty Source Yorkshire and North East GLH was added to EPB41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | EPB41 | Louise Daugherty commented on gene: EPB41: 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: EPB41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 611804 Elliptocytosis-1; PMID(s): 3134067; 1430200; 8423235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | EPB41 | Frances Smith reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: 3134067, 1430200, 8423235; Phenotypes: 611804 Elliptocytosis-1; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | EPB41 |
Louise Daugherty Added phenotypes 611804 Elliptocytosis-1 for gene: EPB41 Publications for gene EPB41 were changed from 1430200; 3755799; 3134067 to 8423235; 1430200; 3134067 |
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| Rare anaemia v0.7 | EPB41 | Louise Daugherty Source London South GLH was added to EPB41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | EPB41 | Louise Daugherty reviewed gene: EPB41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | EPB41 | Carl Fratter reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | EPB41 | Louise Daugherty Source NHS GMS was added to EPB41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | EPB41 |
Louise Daugherty Source Expert Review Green was added to EPB41. Mode of inheritance for gene EPB41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Elliptocytosis; Hereditary elliptocytosis; Elliptocytosis-1,611804; RBC membrane abnormality for gene: EPB41 Publications for gene EPB41 were changed from to 1430200; 3755799; 3134067 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | EPB41 |
Louise Daugherty gene: EPB41 was added gene: EPB41 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EPB41 was set to |
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