RAX

retina and anterior neural fold homeobox
OMIM: 601881, Gene2Phenotype

6 panels

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


Level 2: Endocrinology
Version 4.11
Latest signed off version: v4.10 (12 Aug 2026)

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


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
  • Microphthalmia, isolated 3, OMIM:611038
  • isolated microphthalmia 3, MONDO:0012604
Green RAX in DDG2P


Version 8.1
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
    • MICROPHTHALMIA ISOLATED TYPE 3 611038
    Green RAX in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.57

    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


    Level 2: Developmental disorders
    Version 11.26
    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 Amber
    Phenotypes
    • Microphthalmia, isolated 3, OMIM:611038
    • isolated microphthalmia 3, MONDO:0012604
    Green RAX 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microphthalmia, isolated 3, OMIM:611038
    • isolated microphthalmia 3, MONDO:0012604