Genomics England
GMS Panels
Panels
Genes and Entities

UBA2

ubiquitin like modifier activating enzyme 2
OMIM: 613295
PanelMode of inheritanceDetails
2 panels
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
split hand-foot malformation MONDO:0016576, aplasia cutis congenita (disease) MONDO:0007145, ectrodactyly
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
split hand-foot malformation MONDO:0016576, aplasia cutis congenita (disease) MONDO:0007145, Ectrodactyly