Haematological malignancies for rare disease

Gene: RUNX1

Green List (high evidence)

RUNX1 (runt related transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000159216
EnsemblGeneIds (GRCh37): ENSG00000159216
OMIM: 151385, Gene2Phenotype
RUNX1 is in 7 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • Quantitative and qualitative platelet disorders with propensity to myeloid malignancy, Familial platelet disorder with propensity to myeloid malignancy
  • AML, MDS
  • Thrombocytopenia
  • No other known cancer risks
OMIM
151385
Clinvar variants
Variants in RUNX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RUNX1 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

RUNX1 was created by Ellen McDonagh