UBA2:Ensemblv115

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green UBA2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Literature
  • Expert Review Green
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 1.0

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