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Primary immunodeficiency

Gene: OTULIN

Green List (high evidence)

OTULIN (OTU deubiquitinase with linear linkage specificity)
EnsemblGeneIds (GRCh38): ENSG00000154124
EnsemblGeneIds (GRCh37): ENSG00000154124
OMIM: 615712, Gene2Phenotype
OTULIN is in 10 panels

6 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 1:38 p.m. | Last Modified: 14 Oct 2020, 1:38 p.m.
Panel Version: 2.290
The following PubMed IDs were added to entity OTULIN: 27559085. These publications have been associated with OMIM phenotype MIM#617099, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West 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 on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: 3 unrelated cases of OTULIN variants causing MIM:617099 from PMID:27523608 and PMID:27559085. Confirmed DD-G2P for ORAS syndrome (alternative name for MIM:617099). Symptoms of MIM:617099 include recurrent fevers. PMID:27559085 (Zhou et al 2016) report 2 missense and 1 frameshift mutation in OTULIN in one Pakistani family and 2 Turkish families. The Pakistani family is the same family that is reported in PMID:27523608. PMID:27523608 (Damgaard et al, 2016) report 3 affected members of a consanguineous Pakistani family with MIM:617099. From Rebecca Foulger (review of Periodic fevers panel 15 Aug 2017)
Created: 19 Jun 2018, 3:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome 617099

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, 617099
  • Fever, diarrhea , dermatitis
  • Autoinflammatory Disorders
OMIM
615712
Clinvar variants
Variants in OTULIN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to OTULIN. Publications for gene OTULIN were updated from 27523608; 27559085 to 27559085; 27523608 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to OTULIN.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to OTULIN.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to OTULIN.

12 Jul 2018, Gel status: 4

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: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, 617099, Fever, diarrhea , dermatitis, Autoinflammatory Disorders

27 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

27 Jun 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, 617099

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to OTULIN. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to OTULIN. Panel: Primary immunodeficiency disorders

19 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

OTULIN was added to Primary immunodeficiency disorders panel. Sources: Expert Review

19 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

OTULIN was created by Sarah Leigh