MSX1

msh homeobox 1
OMIM: 142983, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MSX1 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 3, Witkop type, OMIM:189500
  • Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600
Tags
  • Q1_26_MOI
Green MSX1 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.30

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia 3, Witkop type, OMIM:189500
Green MSX1 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
  • Orofacial cleft 5, OMIM:608874
Green MSX1 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
    • CLEFT LIP +/- CLEFT PALATE 608874
    Green MSX1 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Orofacial cleft 5, OMIM:608874
    • Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600
    Red MSX1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Ectodermal dysplasia 3, Witkop type, OMIM:189500
    • Orofacial cleft 5, OMIM:608874
    • Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600