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Primary immunodeficiency

Gene: USP18

Amber List (moderate evidence)

USP18 (ubiquitin specific peptidase 18)
EnsemblGeneIds (GRCh38): ENSG00000184979
EnsemblGeneIds (GRCh37): ENSG00000184979
OMIM: 607057, Gene2Phenotype
USP18 is in 10 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:47 p.m. | Last Modified: 20 Oct 2020, 3:47 p.m.
Panel Version: 2.364

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green based on expert reviews.
Created: 15 Apr 2020, 3:22 p.m. | Last Modified: 15 Apr 2020, 3:22 p.m.
Panel Version: 2.70

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported. Note cryptic 3' deletion identified in one. We have included this gene on our 'systemic auto inflammatory disease' panel (as well as a number of other panels aimed at the principal presenting features). As other similar disorders such as Aicardi-Goutieres syndrome are included in the PID panel, there is an argument to be made about consistency.
Created: 12 Apr 2020, 4:31 a.m. | Last Modified: 12 Apr 2020, 4:31 a.m.
Panel Version: 2.51

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Agree with Tracy, very high confidence that mutations in this gene cause severe pseudo-TORCH picture
Created: 23 Oct 2019, 7 a.m. | Last Modified: 23 Oct 2019, 7 a.m.
Panel Version: 1.132

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

agree with all the Amber genes
Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

I think USP18 should be green: five PTS patients from two unrelated families
Created: 26 Sep 2019, 12:43 p.m. | Last Modified: 26 Sep 2019, 12:43 p.m.
Panel Version: 1.127
The amber genes are covered on our targeted exome, we feel that these should be covered in the testing
Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114

Louise Daugherty (Genomics England Curator)

I don't know

Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Created: 12 Nov 2019, 5:04 p.m. | Last Modified: 12 Nov 2019, 5:04 p.m.
Panel Version: 1.137
Pseudo TORCH syndrome: Aicardi-Goutiere like - severe intracranial haemorrhage, thrombocytopaenia, seizures, liver failure caused by interferon activation - probable green association, is it a relevant phenotype?
2 families (one homozygous, one compound het where one variant was the same as the first family with possible common ancestor) - borderline, with lack of USP18 expression - abnormal activation of the immune system (interferon) - is this a likely presentation in immunology clinic?
Created: 26 Sep 2019, 4 p.m. | Last Modified: 26 Sep 2019, 4 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group, but flagged for further follow up with the Immunology Test Group due to the subsequent conflicting review. Evidence /opinion needs consensus before upgrading to Green
Created: 26 Sep 2019, 10:59 a.m. | Last Modified: 26 Sep 2019, 1:13 p.m.
Panel Version: 1.127
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. Although discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 to rate Amber in the confirmed follow up email on 20th June North West GLH reasserted that USP18 should be Green
Created: 25 Sep 2019, 3 p.m. | Last Modified: 26 Sep 2019, 1:13 p.m.
Panel Version: 1.127
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. : five PTS patients from two unrelated families. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019
Created: 15 Aug 2019, 4:30 p.m. | Last Modified: 15 Aug 2019, 4:55 p.m.
Panel Version: 1.51
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): USP18 .PanelApp HGNC gene symbol check: USP18 . IUIS Disease: USP18 deficiency . IUIS Inheritance: AR , .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: TORCH like syndrome. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Type 1 Interferonopathies
Created: 6 Jul 2018, 12:23 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
  • North West GLH
  • London North GLH
  • NHS GMS
  • IUIS Classification February 2018
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397
  • Autoinflammatory Disorders
Tags
for-review
OMIM
607057
Clinvar variants
Variants in USP18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: USP18.

8 Oct 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: USP18 were changed from Pseudo-TORCH syndrome 2, 617397; Autoinflammatory Disorders; TORCH like syndrome to Pseudo-TORCH syndrome 2, 617397; Autoinflammatory Disorders

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

15 Apr 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: USP18 were set to 32048120; 27325888; 31272490; 32086639

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to USP18. Added phenotypes Autoinflammatory Disorders; TORCH like syndrome for gene: USP18 Publications for gene USP18 were updated from 31272490; 27325888 to 32048120; 27325888; 31272490; 32086639

26 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to USP18.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to USP18.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to USP18.

15 Aug 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: USP18 were changed from TORCH like syndrome; Autoinflammatory Disorders to TORCH like syndrome; Autoinflammatory Disorders; Pseudo-TORCH syndrome 2, 617397

15 Aug 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: USP18 were set to

29 Mar 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: USP18 was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene USP18 were set to TORCH like syndrome, Autoinflammatory Disorders

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

USP18 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

USP18 was created by Louise Daugherty