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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOHANSON-BLIZZARD SYNDROME 243800
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOHANSON-BLIZZARD SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Johanson-Blizzard syndrome, 243800, JOHANSON-BLIZZARD SYNDROME (JBS)