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  3. RUNX1
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IBMDx study

Gene: RUNX1

Green List (high evidence)
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: Imported from Bone Marrow Failure panel version 0.127

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • 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
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RUNX1 was added gene: RUNX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RUNX1 was set to Unknown Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399