Inherited predisposition to acute myeloid leukaemia (AML)
Gene: RUNX1
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, 12:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
601399 Platelet disorder, familial, with associated myeloid malignancy; 601626 Leukemia, acute myeloid
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; 601399 Platelet disorder, familial, with associated myeloid malignancy
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; 601399 Platelet disorder, familial, with associated myeloid malignancy
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, 4:41 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: RUNX1; 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; 601399 Platelet disorder, familial, with associated myeloid malignancy; 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: RUNX1; 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, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy; 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: SRP72; 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: 602122 (OMIN gene description ID); PMID(s): 23926458; 28600339Created: 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: RUNX1 were changed from 601399 (OMIM phenotype description ID); 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy to Leukemia, acute myeloid, OMIM:601626; Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399
Gene: runx1 has been classified as Green List (High Evidence).
Publications for gene: RUNX1 were set to 19357396; 23926458; 11830488
Added phenotypes 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Source North West GLH was added to RUNX1.
Added phenotypes 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Source Yorkshire and North East GLH was added to RUNX1.
Source NHS GMS was added to RUNX1. Added phenotypes 601399 (OMIM phenotype description ID) for gene: RUNX1
Source Expert Review Amber was added to RUNX1. Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 601399 (OMIM phenotype description ID) for gene: RUNX1 Publications for gene RUNX1 were changed from to 19357396; 23926458; 11830488 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: RUNX1 was added gene: RUNX1 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RUNX1 was set to