| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v1.0 | KIF23 | Louise Daugherty commented on gene: KIF23: Substantial support from all four GLHs that this gene should be Green, so will remain Green. However, The gene will be flagged up for discussion at the next iteration (version) of this panel to be used for GMS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.0 | KIF23 | Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | KIF23 | Louise Daugherty commented on gene: KIF23: 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: KIF23; 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: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | KIF23 | Steve Keeney reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Congenital dyserythropoietic anemia type III, CDA III, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | KIF23 | Louise Daugherty Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | KIF23 | Louise Daugherty Source North West GLH was added to KIF23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | KIF23 | Louise Daugherty commented on gene: KIF23: 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: KIF23; 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: N/A Anaemia, dyserythropoietic congenital, type III; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | KIF23 | Mandy nesbitt reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anaemia, dyserythropoietic congenital, type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | KIF23 | Louise Daugherty Added phenotypes Anaemia, dyserythropoietic congenital, type III for gene: KIF23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | KIF23 | Louise Daugherty Source Yorkshire and North East GLH was added to KIF23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | KIF23 | Louise Daugherty commented on gene: KIF23: 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: KIF23; 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: 605064 Congenital dyserythropoietic anaemia type 3; PMID(s): 23570799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | KIF23 | Frances Smith reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 23570799; Phenotypes: 605064 Congenital dyserythropoietic anaemia type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | KIF23 |
Louise Daugherty Added phenotypes 605064 Congenital dyserythropoietic anaemia type 3 for gene: KIF23 Publications for gene KIF23 were changed from 7711721; 7323912; 23570799 to 23570799 |
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| Rare anaemia v0.7 | KIF23 | Louise Daugherty Source London South GLH was added to KIF23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | KIF23 | Louise Daugherty reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | KIF23 | Carl Fratter reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | KIF23 | Louise Daugherty Source NHS GMS was added to KIF23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | KIF23 |
Louise Daugherty Source Expert Review Green was added to KIF23. Mode of inheritance for gene KIF23 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23 Publications for gene KIF23 were changed from to 7711721; 7323912; 23570799 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | KIF23 |
Louise Daugherty gene: KIF23 was added gene: KIF23 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KIF23 was set to |
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