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  3. USP18
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BabyScreen+ newborn screening

Gene: USP18

Amber List (moderate evidence)
USP18 (ubiquitin specific peptidase 18)
EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Very likely to present symptomatically at birth. Treatment not well established.
Created: 14 Mar 2023, 1:25 a.m. | Last Modified: 14 Mar 2023, 1:25 a.m.
Panel Version: 0.1971

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2 MIM#617397

Created: 14 Mar 2023, 1:25 a.m.
Last Modified: 14 Mar 2023, 1:25 a.m.
Panel version: 0.1971

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway

Treatment Ruxolitinib (single patient only) - is a single patient with successful treatment enough?
Sources: Expert list
Created: 9 Mar 2023, 9:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2 MIM#617397

Publications

Created: 9 Mar 2023, 9:58 a.m.

Panel version: 0.1958

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pseudo-TORCH syndrome 2 MIM#617397
OMIM
607057
Clinvar variants
Variants in USP18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp18 has been classified as Amber List (Moderate Evidence).

14 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp18 has been classified as Amber List (Moderate Evidence).

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: USP18 was added gene: USP18 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to PMID: 31940699, 27325888, 12833411 Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2 MIM#617397 Review for gene: USP18 was set to AMBER