Cytopenias and congenital anaemiasGene: RUNX1
Comment on list classification: Kept rating as red after discussion with clinicians, since largely a platelet disorder.
Created: 9 Mar 2017, 2:23 p.m.
Somatic variants only reported in OMIM and COSMIC gene census.
Created: 9 Mar 2017, 11:30 a.m.
PMID:19357396 (Preudhomme et al. 2009) reported 16 individuals with familial platelet disorder from 4 unrelated French families associated with heterozygous mutation in or deletion of the RUNX1 gene. Of the 8 with AML, 6 were found to have a somatic RUNX1 mutation: 4 had acquired point mutations and 2 had acquired trisomy 21. The findings indicated that a second genetic event involving RUNX1 is often associated with progression to acute leukemia in patients with familial platelet disorder.
Created: 9 Mar 2017, 11:29 a.m.
PMID:18173751 summarises that Germline mutations in RUNX1 result in familial platelet disorder with propensity to myeloid malignancy.
Created: 9 Mar 2017, 11:28 a.m.
Monoallelic RUNX1 mutations cause familial platelet disorder with predisposition to AML
Created: 8 Mar 2017, 11:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Myelodysplastic syndrome (MDS), Paediatric; Familial platelet disorder with associated myeloid malignancy
Variants in this GENE are reported as part of current diagnostic practice
Tag somatic-germline was removed from gene: RUNX1. Tag somatic tag was added to gene: RUNX1.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for RUNX1 were set to 18173751; 21606161; 18478040
Publications for RUNX1 were set to 18173751; 21606161
Mode of inheritance for RUNX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
RUNX1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,UKGTN
RUNX1 was created by LouiseD