This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: USP18
USP18 (ubiquitin specific peptidase 18)
EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 9 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Pseudo-TORCH syndrome 2, MIM#617397
- OMIM
- 607057
- Clinvar variants
- Variants in USP18
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- COVID-19 research
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: USP18 was added gene: USP18 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to 27325888; 31940699 Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM#617397