| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v1.18 | C15orf41 | Arina Puzriakova Publications for gene: C15orf41 were set to 23716552; 29031773; 29885034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.17 | C15orf41 | Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital dyserythropoietic anaemia type 1b; 615631 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.4 | C15orf41 | Catherine Snow commented on gene: C15orf41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.4 | C15orf41 | Catherine Snow Tag new-gene-name tag was added to gene: C15orf41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | C15orf41 | Louise Daugherty commented on gene: C15orf41: 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: C15orf41; 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: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib 615631; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | C15orf41 | Steve Keeney reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib, 615631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | C15orf41 | Louise Daugherty Added phenotypes Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | C15orf41 | Louise Daugherty Source North West GLH was added to C15orf41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | C15orf41 | Louise Daugherty commented on gene: C15orf41: 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: C15orf41; 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: 615631 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | C15orf41 | Mandy nesbitt reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615631 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | C15orf41 | Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital Dyserythropoietic Anemia for gene: C15orf41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | C15orf41 | Louise Daugherty Source Yorkshire and North East GLH was added to C15orf41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | C15orf41 | Louise Daugherty commented on gene: C15orf41: 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: C15ORF41; 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: 615631 Congenital dyserythropoietic anaemia type 1b; PMID(s): 29885034; 29031773; 23716552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | C15orf41 | Frances Smith reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: 29885034, 29031773, 23716552; Phenotypes: 615631 Congenital dyserythropoietic anaemia type 1b; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | C15orf41 |
Louise Daugherty Added phenotypes 615631 Congenital dyserythropoietic anaemia type 1b for gene: C15orf41 Publications for gene C15orf41 were changed from 9220189; 16643452; 23716552 to 23716552; 29031773; 29885034 |
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| Rare anaemia v0.7 | C15orf41 | Louise Daugherty Source London South GLH was added to C15orf41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | C15orf41 | Louise Daugherty reviewed gene: C15orf41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | C15orf41 | Carl Fratter reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | C15orf41 | Louise Daugherty Source NHS GMS was added to C15orf41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | C15orf41 |
Louise Daugherty Source Expert Review Green was added to C15orf41. Mode of inheritance for gene C15orf41 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41 Publications for gene C15orf41 were changed from to 9220189; 16643452; 23716552 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | C15orf41 |
Louise Daugherty gene: C15orf41 was added gene: C15orf41 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: C15orf41 was set to |
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