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  3. RUNX1
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Anaemias and red cell disorders

Gene: RUNX1

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

1 review

BRIDGE consortium (NIHRBR-RD)

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

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

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Familial MDS (Myelodysplastic syndromes)
  • Platelet Disorder, Familial, With Associated Myeloid Malignancy
OMIM
151385
Clinvar variants
Variants in RUNX1
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RUNX1 was created by ellenmcdonagh

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RUNX1 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list