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Mendeliome

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

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Platelet disorder associated with the development of myelodysplasia and acute myelogenous leukaemia. More than 10 families reported.
Created: 6 Apr 2022, 1:01 a.m. | Last Modified: 6 Apr 2022, 1:01 a.m.
Panel Version: 0.12573

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Leukemia, acute myeloid, MIM# 601626

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
  • Leukemia, acute myeloid, MIM# 601626
OMIM
151385
Clinvar variants
Variants in RUNX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2022, 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).

6 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RUNX1 were changed from to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Leukemia, acute myeloid, MIM# 601626

6 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RUNX1 were set to

6 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RUNX1 was added gene: RUNX1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RUNX1 was set to Unknown