Inherited predisposition to acute myeloid leukaemia (AML)
Gene: GATA2Comment on phenotypes: This gene is also associated with Immunodeficiency 21 (MIM# 614172)Created: 3 Mar 2021, 4:31 p.m. | Last Modified: 3 Mar 2021, 4:31 p.m.
Panel Version: 1.10
On the current WWMGLH Familial MDS/AML panel. In WHO classification. Testing recommended in AML ELN guidelines and by Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378).Created: 7 Mar 2019, noon
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to}
Publications
Variants in this GENE are reported as part of current diagnostic practice
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, 2:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
601626 {Leukemia, acute myeloid, susceptibility to}
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
601626 {Leukemia, acute myeloid, susceptibility to}
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 4:38 p.m.
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? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; PMID(s): none submittedCreated: 18 Feb 2019, 2:12 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 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: 601626 {Leukemia, acute myeloid, susceptibility to}; PMID(s): none submittedCreated: 14 Feb 2019, 2:43 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: RUNX1; Suggested intial gene rating: not submitted; Are variants in this gene part of your current diagnostic practice? not submitted; MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601399 (OMIM phenotype description ID); PMID(s): 11830488; 19357396; 23926458Created: 5 Feb 2019, 8:10 p.m.
Gene rating (none 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: 5 Feb 2019, 8:08 p.m.
Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to} to {Leukemia, acute myeloid, susceptibility to}, OMIM:601626; {Myelodysplastic syndrome, susceptibility to}, OMIM:614286; Emberger syndrome, OMIM:614038
Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID) to 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to}
Publications for gene: GATA2 were set to 23926458; 28600339
Gene: gata2 has been classified as Green List (High Evidence).
Added phenotypes 601626 {Leukemia, acute myeloid, susceptibility to} for gene: GATA2
Source North West GLH was added to GATA2.
Added phenotypes 601626 {Leukemia, acute myeloid, susceptibility to} for gene: GATA2
Source Yorkshire and North East GLH was added to GATA2.
Source NHS GMS was added to GATA2. Added phenotypes 137295 (OMIN gene description ID) for gene: GATA2
Source Expert Review Amber was added to GATA2. Mode of inheritance for gene GATA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 137295 (OMIN gene description ID) for gene: GATA2 Publications for gene GATA2 were changed from to 23926458; 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: GATA2 was added gene: GATA2 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GATA2 was set to