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| Iron metabolism disorders - NOT common HFE mutations v1.9 | CP | Sarah Leigh Phenotypes for gene: CP were changed from 604290 Hemosiderosis, systemic, due to aceruloplasminemia; 604290 ACERULOPLASMINEMIA to aceruloplasminemia MONDO:0011426; Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.25 | CP | Louise Daugherty commented on gene: CP: 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: CP; 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: 604290.ACERULOPLASMINEMIA; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.24 | CP | Steve Keeney reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604290 ACERULOPLASMINEMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.23 | CP | Louise Daugherty Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.21 | CP | Louise Daugherty Source North West GLH was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.20 | CP | Louise Daugherty commented on gene: CP: 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: CP; 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: 604290 ACERULOPLASMINEMIA; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.15 | CP | Mandy nesbitt reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604290 ACERULOPLASMINEMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.14 | CP |
Louise Daugherty Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP Publications for gene CP were changed from 8641692; 8789443; 11756598(potentially evidence for AD inheritance) to 15338274 |
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| Iron metabolism disorders - NOT common HFE mutations v0.12 | CP | Louise Daugherty Source Yorkshire and North East GLH was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.11 | CP | Louise Daugherty commented on gene: CP: 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: CP; 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: 604290 Hemosiderosis, systemic, due to aceruloplasminemia; PMID(s): 8641692; 8789443; 11756598(potentially evidence for AD inheritance) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.10 | CP | Frances Smith reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: 8641692, 8789443, 11756598(potentially evidence for AD inheritance); Phenotypes: 604290 Hemosiderosis, systemic, due to aceruloplasminemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.9 | CP |
Louise Daugherty Added phenotypes 604290 Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP Publications for gene CP were changed from 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155 to 8641692; 8789443; 11756598(potentially evidence for AD inheritance) |
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| Iron metabolism disorders - NOT common HFE mutations v0.7 | CP | Louise Daugherty Source London South GLH was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | CP | Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | CP | Carl Fratter reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | CP | Louise Daugherty Source NHS GMS was added to CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.3 | CP |
Louise Daugherty Source Expert Review Green was added to CP. Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP Publications for gene CP were changed from to 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Iron metabolism disorders - NOT common HFE mutations v0.2 | CP |
Louise Daugherty gene: CP was added gene: CP was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CP was set to |
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