1. Panels
  2. Cleidocranial Dysplasia
  3. RUNX2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Cleidocranial Dysplasia

Gene: RUNX2

Green List (high evidence)
RUNX2 (runt related transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000124813
EnsemblGeneIds (GRCh37): ENSG00000124813
OMIM: 600211, Gene2Phenotype
RUNX2 is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #119600) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 10:44 p.m. | Last Modified: 17 Dec 2025, 10:44 p.m.
Panel Version: 2.2
RUNX2 has been added to the panel for R415 Cleidocranial Dysplasia with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 9:46 a.m. | Last Modified: 30 Jun 2023, 9:46 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 30 Jun 2023, 9:46 a.m.
Last Modified: 30 Jun 2023, 9:46 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cleidocranial dysplasia, OMIM:119600
  • cleidocranial dysplasia 1, MONDO:0007340
OMIM
600211
Clinvar variants
Variants in RUNX2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RUNX2 were changed from to Cleidocranial dysplasia, OMIM:119600; cleidocranial dysplasia 1, MONDO:0007340

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RUNX2 was added gene: RUNX2 was added to Cleidocranial Dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted