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  2. Bleeding and Platelet Disorders
  3. RUNX1
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Bleeding and Platelet Disorders

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)

Well established gene-disease association.
Sources: Expert list
Created: 16 Aug 2020, 5:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 16 Aug 2020, 5:19 a.m.

Panel version: 0.150

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
OMIM
151385
Clinvar variants
Variants in RUNX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: runx1 has been classified as Green List (High Evidence).

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: runx1 has been classified as Green List (High Evidence).

16 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RUNX1 was added gene: RUNX1 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RUNX1 were set to 10508512 Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Review for gene: RUNX1 was set to GREEN