UBA1

ubiquitin like modifier activating enzyme 1
OMIM: 314370
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile 301830
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal muscular atrophy, X-linked 2, infantile 301830
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Infantile Spinal Muscular Atrophy, X-Linked, Spinal muscular atrophy, X-linked 2, infantile, 301830