1. Genes and Genomic Entities
  2. RFX3

RFX3

regulatory factor X3
OMIM: 601337, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green RFX3 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities
    • complex neurodevelopmental disorder, MONDO:0100038
    Tags
    • gene-checked
    Green RFX3 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    • Autism spectrum disorder, MONDO:0005258
    • Attention deficit-hyperactivity disorder, MONDO:0007743
    Tags
    • gene-checked