MSX2

msh homeobox 2
OMIM: 123101, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MSX2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
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
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Craniosynostosis, type 2 604757
    • Parietal foramina with cleidocranial dysplasia 168550
    • Parietal foramina 1 168500
    Green MSX2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    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
    • ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM
    • CRANIOSYNOSTOSIS, TYPE 2
    Green MSX2 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Craniosynostosis, type 2, 604757
    • Parietal foramina 1, 168500
    • Parietal foramina with cleidocranial dysplasia, 168550
    • Craniosynostosis
    • MSX2-related craniosynostosis
    Green MSX2 in DDG2P


    Version 6.424
    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
    • ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550
    • CRANIOSYNOSTOSIS, TYPE 2 604757
    Red MSX2 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Red MSX2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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
    • Craniosynostosis, type 2, 604757
    • Parietal foramina 1, 168500
    • Parietal foramina with cleidocranial dysplasia, 168550