| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cytopenia - NOT Fanconi anaemia v0.64 | GATA2 | Louise Daugherty Classified gene: GATA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.64 | GATA2 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.64 | GATA2 | Louise Daugherty Gene: gata2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.63 | GATA2 | Louise Daugherty commented on gene: GATA2: Discrepant reviews for GATA2 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | GATA2 | Louise Daugherty commented on gene: GATA2: 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: GATA2; 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, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies;Familial MDS (Myelodysplastic syndromes);Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172;Emberger syndrome, 614038 (includes pancytopenia);{Myelodysplastic syndrome, susceptibility to}, 614286;{Leukemia, acute myeloid, susceptibility to}, 601626;Primary Lymphedema with Myelodysplasia;Immunodeficiency 21;Leukemia, Acute Myeloid;Lymphedema, Primary, With Myelodysplasia;Myelodysplastic Syndrome;Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | GATA2 | Steve Keeney reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies, Familial MDS (Myelodysplastic syndromes), Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172, Emberger syndrome, 614038 (includes pancytopenia), {Myelodysplastic syndrome, susceptibility to}, 614286, {Leukemia, acute myeloid, susceptibility to}, 601626, Primary Lymphedema with Myelodysplasia, Immunodeficiency 21, Leukemia, Acute Myeloid, Lymphedema, Primary, With Myelodysplasia, Myelodysplastic Syndrome, Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | GATA2 | Louise Daugherty Added phenotypes Congenital dyserythropoietic anemia (CDA); Myelodysplastic Syndrome; Familial MDS (Myelodysplastic syndromes); Leukemia, Acute Myeloid; {Leukemia, acute myeloid, susceptibility to}, 601626; Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; {Myelodysplastic syndrome, susceptibility to}, 614286; Primary Lymphedema with Myelodysplasia; Lymphedema, Primary, With Myelodysplasia; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Immunodeficiency 21; Emberger syndrome, 614038 (includes pancytopenia); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 for gene: GATA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | GATA2 | Louise Daugherty Source North West GLH was added to GATA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | GATA2 | Louise Daugherty commented on gene: GATA2: 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: GATA2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614038 Emberger syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | GATA2 | Mandy nesbitt reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614038 Emberger syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | GATA2 | Louise Daugherty Added phenotypes 614038 Emberger syndrome for gene: GATA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | GATA2 | Louise Daugherty Source Yorkshire and North East GLH was added to GATA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | GATA2 | Louise Daugherty commented on gene: GATA2: 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: GATA2; 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: 614038 Emberger syndrome; PMID(s): 21892158; 21892162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | GATA2 | Frances Smith reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614038 Emberger syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | GATA2 |
Louise Daugherty Added phenotypes 614038 Emberger syndrome for gene: GATA2 Publications for gene GATA2 were changed from 27418648; 21892162 to 21892158; 21892162 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | GATA2 | Louise Daugherty Source London South GLH was added to GATA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | GATA2 | Louise Daugherty reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | GATA2 | Carl Fratter reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | GATA2 | Louise Daugherty Source NHS GMS was added to GATA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | GATA2 |
Louise Daugherty Source Expert Review Green was added to GATA2. Mode of inheritance for gene GATA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Congenital dyserythropoietic anemia (CDA); Myelodysplastic Syndrome; Familial MDS (Myelodysplastic syndromes); Leukemia, Acute Myeloid; {Leukemia, acute myeloid, susceptibility to}, 601626; Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies; {Myelodysplastic syndrome, susceptibility to}, 614286; Primary Lymphedema with Myelodysplasia; Lymphedema, Primary, With Myelodysplasia; Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency; Immunodeficiency 21; Emberger syndrome, 614038 (includes pancytopenia); Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 for gene: GATA2 Publications for gene GATA2 were changed from to 27418648; 21892162 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | GATA2 |
Louise Daugherty gene: GATA2 was added gene: GATA2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GATA2 was set to |
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