1. Genes and Genomic Entities
  2. UBA2

UBA2

ubiquitin like modifier activating enzyme 2
OMIM: 613295, Gene2Phenotype

5 panels

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


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

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 2: Cancer susceptibility
    Version 4.37
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • split hand-foot malformation MONDO:0016576
    • aplasia cutis congenita (disease) MONDO:0007145
    • Ectrodactyly
    Green UBA2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ACCES syndrome, OMIM:619959
    Green UBA2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay, OMIM:619959