ALX4

ALX homeobox 4
OMIM: 605420, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ALX4 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Frontonasal dysplasia 2 613451
    Green ALX4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FRONTONASAL DYSPLASIA 2
    • PARIETAL FORAMINA 2
    Green ALX4 in Rare syndromic craniosynostosis or isolated multisuture synostosis


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

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parietal foramina
    • Parietal foramina 2, (AD), 609597
    • Frontonasal dysplasia 2, (AR), 613451
    Green ALX4 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PARIETAL FORAMINA 2 609597
    • FRONTONASAL DYSPLASIA 2 613451
    Amber ALX4 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Parietal foramina
    • Parietal foramina 2, (AD), 609597
    • Frontonasal dysplasia 2, (AR), 613451