Cytopenias and congenital anaemias

Gene: 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.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric; Familial platelet disorder with associated myeloid malignancy

Publications

• 18173751
• 21606161

Variants in this GENE are reported as part of current diagnostic practice