RAX

retina and anterior neural fold homeobox
OMIM: 601881, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber RAX in Pituitary hormone deficiency


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert review
Phenotypes
  • Microphthalmia, isolated 3, OMIM:611038
  • isolated microphthalmia 3, MONDO:0012604
Tags
  • watchlist
Green RAX in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Microphthalmia, isolated 3, OMIM:611038
  • isolated microphthalmia 3, MONDO:0012604
Green RAX in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA ISOLATED TYPE 3 611038
    Green RAX in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Microphthalmia, isolated 3, OMIM:611038
    • isolated microphthalmia 3, MONDO:0012604
    Amber RAX in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Microphthalmia, isolated 3, OMIM:611038
    • isolated microphthalmia 3, MONDO:0012604
    Green RAX in Structural eye disease


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microphthalmia, isolated 3, OMIM:611038
    • isolated microphthalmia 3, MONDO:0012604
    Green RAX in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microphthalmia, isolated 3, 611038