Genomics England
GMS Panels
Panels
Genes and Entities

UFC1

ubiquitin-fold modifier conjugating enzyme 1
OMIM: 610554
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe early-onset encephalopathy with progressive microcephaly
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with spasticity and poor growth, 618076, microcephaly