Bone Marrow Failure
Gene: RUNX1

RUNX1 (runt related transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000159216
EnsemblGeneIds (GRCh37): ENSG00000159216
OMIM: 151385, Gene2Phenotype
RUNX1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Platelet disorder associated with the development of myelodysplasia and acute myelogenous leukaemia. More than 10 families reported.
Created: 14 Sep 2020, 11:34 a.m. | Last Modified: 14 Sep 2020, 11:34 a.m.

Panel Version: 0.127

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399

Publications

Created: 14 Sep 2020, 11:34 a.m.
Last Modified: 14 Sep 2020, 11:34 a.m.
Panel version: 0.127

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399

OMIM

151385

Clinvar variants

Variants in RUNX1

Penetrance

None

Publications

Panels with this gene