1. Genes and Genomic Entities
  2. RUNX2

RUNX2

runt related transcription factor 2
OMIM: 600211, Gene2Phenotype

7 panels

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


Level 2: Musculoskeletal
Version 8.40
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    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


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 6.4
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

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


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    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 Cleidocranial Dysplasia


    Level 2: Musculoskeletal
    Version 2.3
    Latest signed off version: v2.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Cleidocranial dysplasia, OMIM:119600
    • cleidocranial dysplasia 1, MONDO:0007340