Genomics England
GMS Panels
Panels
Genes and Entities

USP18

ubiquitin specific peptidase 18
OMIM: 607057
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe pseudo-TORCH syndrome
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.91
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397, Autoinflammatory Disorders
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudo-TORCH syndrome 2, 617397