UBA2

ubiquitin like modifier activating enzyme 2
OMIM: 613295, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green UBA2 in Mendeliome


Version 1.1891

review 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 0.285

review 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 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 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 1.255

    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