Genomics England
GMS Panels
Panels
Genes and Entities

UBA1

ubiquitin like modifier activating enzyme 1
OMIM: 314370
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile 301830
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
Other
Phenotypes
VEXAS syndrome, somatic, OMIM:301054
Green
in Fetal anomalies
R-numbers: R21, R412
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 Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.8
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