UBA1

ubiquitin like modifier activating enzyme 1
OMIM: 314370, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green UBA1 in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, 301830
  • Infantile Spinal Muscular Atrophy, X-Linked

Red UBA1 in Primary immunodeficiency


Version 2.572
Latest signed off version: v2.1 (24 Feb 2020)

review Other
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • VEXAS syndrome, somatic, OMIM:301054
Tags
  • somatic
  • Q2_22_rating
  • Q2_22_expert_review
  • Q2_22_NHS_review

Green UBA1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile 301830

Green UBA1 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile 301830

Green UBA1 in Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.79
Latest signed off version: v1.30 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830

    No list UBA1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, X-linked 2, infantile MIM#301830

    Green UBA1 in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, X-linked 2, infantile, 301830

    Red UBA1 in Autoinflammatory disorders

    Level 3: Primary immunodeficiency disorders
    Level 2: Haematological disorders
    Version 0.37

    review Other
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • VEXAS syndrome, somatic, OMIM:301054
    Tags
    • somatic
    • to_be_confirmed_NHSE