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 3.1371
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 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 1.84

    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