Cytopenia - NOT Fanconi anaemia
Gene: GATA2
Gene rating submitted 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.Created: 18 Feb 2019, 2:55 p.m.
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)
Gene rating submitted 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.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
614038 Emberger syndrome
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
614038 Emberger syndrome
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 22 Jul 2019, 11:53 a.m. | Last Modified: 22 Jul 2019, 11:53 a.m.
Panel Version: 0.64
Discrepant reviews for GATA2 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.Created: 22 Jul 2019, 11:53 a.m. | Last Modified: 22 Jul 2019, 11:53 a.m.
Panel Version: 0.63
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 submittedCreated: 18 Feb 2019, 2:57 p.m.
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 submittedCreated: 14 Feb 2019, 5:40 p.m.
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; 21892162Created: 8 Feb 2019, 1:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands 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: 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): 21892162;27418648Created: 6 Feb 2019, 3:13 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 3:12 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Gene: gata2 has been classified as Green List (High Evidence).
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
Source North West GLH was added to GATA2.
Added phenotypes 614038 Emberger syndrome for gene: GATA2
Source Yorkshire and North East GLH was added to GATA2.
Added phenotypes 614038 Emberger syndrome for gene: GATA2 Publications for gene GATA2 were changed from 27418648; 21892162 to 21892158; 21892162
Source London South GLH was added to GATA2.
Source NHS GMS was added to GATA2.
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)
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