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Cleidocranial 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 8 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

RUNX2 has been added to the panel for R415 Cleidocranial Dysplasia with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 9:46 a.m. | Last Modified: 30 Jun 2023, 9:46 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

History Filter Activity

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RUNX2 was added gene: RUNX2 was added to Cleidocranial Dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted