1. Genes and Genomic Entities
  2. FBXL3

FBXL3

F-box and leucine rich repeat protein 3
OMIM: 605653, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green FBXL3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review
    • Literature
    Phenotypes
    • Short stature
    • Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220
    • Intellectual disability
    Green FBXL3 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220