Cytopenia - NOT Fanconi anaemia
Gene: RUNX1
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Familial platelet disorder with predisposition to AML, typically presents with mild to moderate thrombocytopenia (normal sized platelets); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel and AML panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panelCreated: 22 Jul 2019, 2:25 p.m. | Last Modified: 22 Jul 2019, 2:25 p.m.
Panel Version: 0.114
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: RUNX1; 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: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): 9746808; 19357396. Comments: Frequencty somatic in MDSCreated: 8 Feb 2019, 1:43 p.m.
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
601399 Platelet disorder, familial, with associated myeloid malignancy
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to RUNX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to RUNX1.
Source Wessex and West Midlands GLH was added to RUNX1. Source Yorkshire and North East GLH was added to RUNX1. Source North West GLH was added to RUNX1.
Phenotypes for gene: RUNX1 were changed from 601399 Platelet disorder, familial, with associated myeloid malignancy to Platelet disorder, familial, with associated myeloid malignancy, 601399
Gene: runx1 has been classified as Red List (Low Evidence).
Source Expert Review Green was added to RUNX1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1
Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1 Publications for gene RUNX1 were changed from to 19357396; 9746808
Source NHS GMS was added to RUNX1.
gene: RUNX1 was added gene: RUNX1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: RUNX1 was set to