Genomics England
GMS Panels
Panels
Genes and Entities

UBQLN2

ubiquilin 2
OMIM: 300264
PanelMode of inheritanceDetails
1 panel
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857