ALX1

ALX homeobox 1
OMIM: 601527, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ALX1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.145
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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

    Green ALX1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FRONTONASAL DYSPLASIA TYPE 3

    Red ALX1 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.55
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Frontonasal dysplasia type 3

    Green ALX1 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Amber ALX1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.60
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Frontonasal dysplasia 3, 613456

    Red ALX1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Frontonasal dysplasia 3 613456

    Amber ALX1 in Structural eye disease


    Version 1.88
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • London North GLH
    Phenotypes
    • Frontonasal Dysplasia 3, FND3, 613456

    Green ALX1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Frontonasal dysplasia 3, 613456