RUNX1 - Gene browser

RUNX1

RUNX family transcription factor 1

HCNC Approved Symbol: RUNX1 (HGNC:10471)
Genomic Coordinates: 21:34,787,801 - 35,049,302 (21q22.12)
Synonyms: PEBP2A2, AMLCR1, AML1, CBFA2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the RUNX1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

05
Patient count

Myelodysplasia: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Global developmental delay: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Aplastic anemia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Thrombocytopenia: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Gastrostomy tube feeding in infancy: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)