1. Genes and Genomic Entities
  2. RUNX2

RUNX2

runt related transcription factor 2
OMIM: 600211, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green RUNX2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510
    • Cleidocranial dysplasia, forme fruste, with brachydactyly 119600
    • Cleidocranial dysplasia, forme fruste, dental anomalies only 119600
    • Cleidocranial dysplasia 119600
    Green RUNX2 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CLEIDOCRANIAL DYSPLASIA
    Green RUNX2 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Craniosynostosis
    • 156510
    Tags
    • gene-duplication
    No list RUNX2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green RUNX2 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CLEIDOCRANIAL DYSPLASIA 119600
    Red RUNX2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Cleidocranial dysplasia, 119600
    • Cleidocranial dysplasia, forme
    • fruste, with brachydactyly, 119600
    • Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600
    • Metaphyseal dysplasia with maxillary
    • hypoplasia with or without brachydactyly, 156510
    Green RUNX2 in Severe Paediatric Disorders


    Version 1.184

    		review 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
    Green RUNX2 in Cleidocranial Dysplasia


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS