RUNX2

runt related transcription factor 2
OMIM: 600211, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green RUNX2 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.72	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis Tags SV/CNV
Green RUNX2 in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cleidocranial dysplasia MIM#119600 Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600 Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510
Green RUNX2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Phenotypes Cleidocranial dysplasia, forme fruste, dental anomalies only 119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510 Cleidocranial dysplasia, forme fruste, with brachydactyly 119600 Cleidocranial dysplasia 119600
Green RUNX2 in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services 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
Green RUNX2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cleidocranial dysostosis
Green RUNX2 in Fetal anomalies Version 1.465	1 review	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
Red RUNX2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Cleidocranial dysplasia MIM#119600 Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600 Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510
Amber RUNX2_CCD_GCN STR in Repeat Disorders Version 0.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Cleidocranial dysplasia MIM#119600 Tags paediatric-onset