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  3. USP18
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Fetal anomalies

Gene: USP18

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Structural brain abnormalities. 6 individuals from 3 families.
Created: 19 Jan 2022, 7:35 a.m. | Last Modified: 19 Jan 2022, 7:35 a.m.
Panel Version: 0.2446

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2 MIM#617397

Created: 19 Jan 2022, 7:35 a.m.
Last Modified: 19 Jan 2022, 7:35 a.m.
Panel version: 0.2446

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID 27325888: 5 affecteds from two families reported with pseudo-TORCH syndrome. Only one of the affecteds had microcephaly but head circumference was only described as "small, no value"

PMID 31940699: One more patient reported but no mention of microcephaly.
Created: 2 Sep 2020, 1:02 a.m. | Last Modified: 2 Sep 2020, 1:02 a.m.
Panel Version: 0.273

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2 MIM#617397

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Sep 2020, 1:02 a.m.
Last Modified: 2 Sep 2020, 1:02 a.m.
Panel version: Imported from Microcephaly panel version 0.273

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Total 3 families, 6 patients, with functional evidence.

1 family with 3 sibs with homozygous truncating mutation in the USP18 gene, segregated with the disorder in the family.
1 family 2 sibs with compound heterozygous mutations.
Cells from patients in both families showed complete absence of the USP18 protein. Patient fibroblasts showed enhanced induction of IFN-stimulated transcripts after stimulation with alpha-IFN compared to controls, and transduction of patient cells with wildtype USP18 rescued these effects at the mRNA and protein level. The findings indicated that the disorder results from an aberrant response to type I IFN, rather than an increase in expression of IFN itself.

1 family, 1 patient with homozygous splice site variant in the USP18 gene This patient had stable mRNA (with skipping of exon 10), and functional studies showed that the mechanism of the mutation was not USP18 deficiency but lack of its ability to stabilize ISG15 (147571) and thereby suppress interferon signaling.
Created: 12 Feb 2020, 3:46 a.m. | Last Modified: 12 Feb 2020, 3:46 a.m.
Panel Version: 0.2132

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2; OMIM #617397

Publications

Created: 12 Feb 2020, 3:46 a.m.
Last Modified: 12 Feb 2020, 3:46 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2132

Details

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

History Filter Activity

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp18 has been classified as Green List (High Evidence).

19 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USP18 were changed from Pseudo-TORCH syndrome 2, 617397 to Pseudo-TORCH syndrome 2, MIM#617397

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp18 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USP18 was added gene: USP18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to 27325888; 12833411; 31940699 Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, 617397