Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RUNX2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cleidocranial dysplasia, 119600 (3) | Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3) | Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3) | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RUNX2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: RUNX2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: RUNX2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: RUNX2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 for gene: RUNX2

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene RUNX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added 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 for gene: RUNX2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to RUNX2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RUNX2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RUNX2 was added gene: RUNX2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RUNX2 was set to