UBA2

ubiquitin like modifier activating enzyme 2
OMIM: 613295, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green UBA2 in Limb disorders


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • split hand-foot malformation MONDO:0016576
    • aplasia cutis congenita (disease) MONDO:0007145
    • ectrodactyly
    Red UBA2 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    review Other
    Sources
    • Literature
    Phenotypes
    • acute lymphoblastic leukemia
    Amber UBA2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • split hand-foot malformation MONDO:0016576
    • aplasia cutis congenita (disease) MONDO:0007145
    • Ectrodactyly
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review