Fetal anomalies
Gene: RUNX2

RUNX2 (runt related transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000124813
EnsemblGeneIds (GRCh37): ENSG00000124813
OMIM: 600211, Gene2Phenotype
RUNX2 is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Genereviews:

Classic CCD can be diagnosed by ultrasound examination in the offspring of an affected parent as early as 14 weeks' gestation. The most consistent features are abnormal clavicles, which are either short (<5th centile for gestational age) or partially or totally absent. Other less specific findings include brachycephalic skull with undermineralization, frontal bossing, and generalized immature ossification

Short/cervical ribs also a feature (OMIM)
Created: 21 Feb 2022, 4:17 a.m. | Last Modified: 21 Feb 2022, 4:17 a.m.

Panel Version: 0.3721

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600

Publications

20301686

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

Created: 21 Feb 2022, 4:17 a.m.
Last Modified: 21 Feb 2022, 4:17 a.m.
Panel version: 0.3721

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Cleidocranial dysplasia MIM#119600
Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600

OMIM

600211

Clinvar variants

Variants in RUNX2

Penetrance

None

Publications

20301686

Panels with this gene