USP18

ubiquitin specific peptidase 18
OMIM: 607057
PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397
R-numbers: R15
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397, Autoinflammatory Disorders
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397