Genomics England
GMS Panels
Panels
Genes and Entities

FBXL3

F-box and leucine rich repeat protein 3
OMIM: 605653
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220, Intellectual disability