UBA2

ubiquitin like modifier activating enzyme 2
OMIM: 613295, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red UBA2 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review Other
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • acute lymphoblastic leukemia

Green UBA2 in Mendeliome


Version 2.588

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ACCES syndrome, MIM# 619959
  • Split-Hand/Foot Malformation
  • Aplasia Cutis Congenita
  • Ectrodactyly

Green UBA2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • ACCES syndrome, MIM# 619959
  • Split-Hand/Foot Malformation
  • Aplasia Cutis Congenita
  • Ectrodactyly

Green UBA2 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • ACCES syndrome, MIM# 619959
    • Split-Hand/Foot Malformation
    • Aplasia Cutis Congenita
    • Ectrodactyly

    Green UBA2 in Fetal anomalies


    Version 2.81

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • ACCES syndrome, MIM# 619959
    • Split-Hand/Foot Malformation
    • Aplasia Cutis Congenita
    • Ectrodactyly