ALX1

ALX homeobox 1
OMIM: 601527, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green ALX1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.8
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Frontonasal dysplasia type 3 613456
    • Frontonasal dysplasia 3 613456
    Green ALX1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FRONTONASAL DYSPLASIA TYPE 3
    Red ALX1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 2026)

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Frontonasal dysplasia type 3
    Green ALX1 in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FRONTONASAL DYSPLASIA TYPE 3 136760
    Green ALX1 in Clefting


    Level 2: Musculoskeletal
    Version 7.10
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Frontonasal dysplasia 3, OMIM:613456
    • frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271
    Red ALX1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Frontonasal dysplasia 3 613456
    Green ALX1 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.8
    Latest signed off version: v5.7 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Frontonasal dysplasia 3, OMIM:613456
    • frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, MONDO:0013271