Genomics England
GMS Panels
Panels
Genes and Entities

UBA2

ubiquitin like modifier activating enzyme 2
OMIM: 613295
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay, OMIM:619959
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ACCES syndrome, OMIM:619959
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.10
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 7.26
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
split hand-foot malformation MONDO:0016576, aplasia cutis congenita (disease) MONDO:0007145, Ectrodactyly