Genomics England
GMS Panels
Panels
Genes and Entities

UBR1

ubiquitin protein ligase E3 component n-recognin 1
OMIM: 605981
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOHANSON-BLIZZARD SYNDROME 243800
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOHANSON-BLIZZARD SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Johanson-Blizzard syndrome, 243800, JOHANSON-BLIZZARD SYNDROME (JBS)