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  2. Metaphyseal dysplasias
  3. RUNX2
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Metaphyseal dysplasias

Gene: RUNX2

Green List (high evidence)
RUNX2 (runt related transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000124813
EnsemblGeneIds (GRCh37): ENSG00000124813
OMIM: 600211, Gene2Phenotype
RUNX2 is in 8 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510
  • Cleidocranial dysplasia 119600
  • Cleidocranial dysplasia, forme fruste, dental anomalies only 119600
  • Cleidocranial dysplasia, forme fruste, with brachydactyly 119600
OMIM
600211
Clinvar variants
Variants in RUNX2
Penetrance
None
Panels with this gene

History Filter Activity

26 May 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: RUNX2 was added gene: RUNX2 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RUNX2 were set to Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600