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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. RUNX2
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GMS Musculoskeletal specialist test group Skeletal 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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Metaphyseal dysplasia gp of SD, Cleidocranial dysplasia and related disorders gp of SD, many cases. Do you report variants in this gene as part of your current diagnostic practice? YES - for CCD and CSS; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleidocranial dysplasia 119600; 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

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

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

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: RUNX2 was added gene: RUNX2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,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, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia 119600