Skeletal dysplasia
Gene: RUNX2EnsemblGeneIds (GRCh38): ENSG00000124813
EnsemblGeneIds (GRCh37): ENSG00000124813
OMIM: 600211, Gene2Phenotype
RUNX2 is in 8 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
well established association with extreme variability reported.
genereviews:
Short stature and dental anomalies were found to be milder in individuals with a classic CCD phenotype who had an intact runt domainCreated: 21 Feb 2022, 4:23 a.m. | Last Modified: 21 Feb 2022, 4:23 a.m.
Panel Version: 0.11011
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510
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
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Cleidocranial dysplasia, forme fruste, dental anomalies only 119600
- Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510
- Cleidocranial dysplasia, forme fruste, with brachydactyly 119600
- Cleidocranial dysplasia 119600
- OMIM
- 600211
- Clinvar variants
- Variants in RUNX2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: runx2 has been classified as Green List (High Evidence).
Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2
Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2
Added New Source, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Source Victorian Clinical Genetics Services was added to RUNX2. Added phenotypes Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia 119600 for gene: RUNX2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RUNX2 was added gene: RUNX2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RUNX2 were set to Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia 119600