| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v2.3 | KLF1 | Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: KLF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v2.3 | KLF1 | Achchuthan Shanmugasundram commented on gene: KLF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v2.2 | KLF1 | Achchuthan Shanmugasundram Mode of inheritance for gene KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.36 | KLF1 | Arina Puzriakova Tag Q1_22_MOI tag was added to gene: KLF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.36 | KLF1 | Arina Puzriakova Phenotypes for gene: KLF1 were changed from Dyserythropoietic anemia, congenital, type IV, 613673; Dyserythropoietic anemia, congenital, type IV; Congenital Dyserythropoietic Anemia; 613673 Congenital Dyserythropoietic Anemia; 613673 Congenital dyserythropoietic anaemia type 4 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.35 | KLF1 | Arina Puzriakova Publications for gene: KLF1 were set to 21055716; 29200155 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.34 | KLF1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'. The expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia. |
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| Rare anaemia v1.34 | KLF1 | Arina Puzriakova Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | KLF1 | Louise Daugherty commented on gene: KLF1: 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: KLF1; 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: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | KLF1 | Steve Keeney reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV, 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | KLF1 | Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | KLF1 | Louise Daugherty Source North West GLH was added to KLF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | KLF1 | Louise Daugherty commented on gene: KLF1: 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: KLF1; 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: 613673 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | KLF1 | Mandy nesbitt reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613673 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | KLF1 | Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV; 613673 Congenital Dyserythropoietic Anemia for gene: KLF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | KLF1 | Louise Daugherty Source Yorkshire and North East GLH was added to KLF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | KLF1 | Louise Daugherty commented on gene: KLF1: 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: KLF1; 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: 613673 Congenital dyserythropoietic anaemia type 4; PMID(s): 21055716; 29200155 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | KLF1 | Frances Smith reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21055716, 29200155; Phenotypes: 613673 Congenital dyserythropoietic anaemia type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | KLF1 |
Louise Daugherty Added phenotypes 613673 Congenital dyserythropoietic anaemia type 4 for gene: KLF1 Publications for gene KLF1 were changed from 21055716 to 21055716; 29200155 |
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| Rare anaemia v0.7 | KLF1 | Louise Daugherty Source London South GLH was added to KLF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | KLF1 | Louise Daugherty reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | KLF1 | Carl Fratter reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | KLF1 | Louise Daugherty Source NHS GMS was added to KLF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | KLF1 |
Louise Daugherty Source Expert Review Green was added to KLF1. Mode of inheritance for gene KLF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1 Publications for gene KLF1 were changed from to 21055716 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | KLF1 |
Louise Daugherty gene: KLF1 was added gene: KLF1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KLF1 was set to |
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