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Osteogenesis imperfecta

Gene: RUNX2

No list

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

2 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:05 p.m.

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Disproportionate Short Stature
Tags
curated_removed
OMIM
600211
Clinvar variants
Variants in RUNX2
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: RUNX2.

14 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RUNX2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory