Genomics England
GMS Panels
Panels
Genes and Entities

UBA1

ubiquitin like modifier activating enzyme 1
OMIM: 314370
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile 301830
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile 301830
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830