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Primary immunodeficiency

Gene: UNC93B1

Green List (high evidence)

UNC93B1 (unc-93 homolog B1, TLR signaling regulator)
EnsemblGeneIds (GRCh38): ENSG00000110057
EnsemblGeneIds (GRCh37): ENSG00000110057
OMIM: 608204, Gene2Phenotype
UNC93B1 is in 3 panels

5 reviews

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)

Eleanor Williams (Genomics England Curator)

Comment on list classification: 3 unrelated cases with plausible disease causing mutations.
Created: 21 Jun 2018, 2:44 p.m.
Comment on phenotypes: Added OMIM phenotype
Created: 21 Jun 2018, 2:34 p.m.
Comment on publications: Added relevant publications
Created: 21 Jun 2018, 2:21 p.m.
In OMIM UNC93B1 is associated with {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}. OMIM evidence comes from Casrouge et al. (2006) (PMID: 16973841) who reports 2 individuals with herpes simplex encephalitis (HSE) caused by deficiency of UNC93B1. Both patients were the products of consanguineous unions. One patient was homozygous for a frameshift mutation resulting in barely detectable UNC93B1 RNA. The other was homozygous for a splice site mutation at the end of exon 6 resulting in skipping of exon 6 of UNC93B1. Neither of these variants were identified in 100 healthy European controls. Feng et al 2015 (PMID: 26757972) report a Chinese patient homozygous for a single-nucleotide substitution at position C.414C>G in exon 4 of UNC93B1 which affected the expression of UNC93B1. PubMed, Clinvar and JensenLab Disease (https://diseases.jensenlab.org/) searches have not found published studies of further cases. No pathogenic variants reported in ClinVar. A mouse model with a missense allele of Unc93b1 exists (Tabeta et al. (2006)(PMID: 16415873) and functional studies show the role of UNC93B1 in regulating Toll-like receptors that play a key role in the innate immune system e.g. Pelka et al. 2018 (PMID: 29768176).
Created: 21 Jun 2018, 2:19 p.m.

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
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): UNC93B1 .PanelApp HGNC gene symbol check: UNC93B1 . IUIS Disease: UNC93B1 deficiency . IUIS Inheritance: AR , .B cells: N/A, .IUIS Other affected cells: CNS resident cells and fibroblasts. IUIS Associated features: Herpes simplex virus 1 encephalitis. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Herpes Simplex Encephalitis (HSE)
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 10:49 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: UNC93, PanelApp HGNC gene symbol check: UNC93B1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Herpetic encephalitis / Herpetic encephalitis (HSE)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: UNC93B1, GRID_Gene_Symbol: UNC93B1, GRID_Transcript_ENS_Community submitted: ENST00000227471, GRID_Transcript_RefSeq: NM_030930.2, GRID_Transcript_ENS_used_on_Production: ENST00000227471
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Herpes simplex encephalitis, susceptibility to, 1
  • Herpetic encephalitis (HSE)
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
OMIM
608204
Clinvar variants
Variants in UNC93B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UNC93B1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to UNC93B1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to UNC93B1.

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.

6 Jul 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: unc93b1 has been classified as Green List (High Evidence).

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene UNC93B1 were set to Herpes simplex encephalitis, susceptibility to, 1, Herpetic encephalitis (HSE), {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551, Herpes simplex virus 1 encephalitis, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to UNC93B1. 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 UNC93B1. Panel: Primary immunodeficiency disorders

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: unc93b1 has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: UNC93B1 were set to Herpes simplex encephalitis, susceptibility to, 1; Herpetic encephalitis (HSE); {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551

21 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: UNC93B1 were set to 16973841; 16415873; 29768176

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to UNC93B1. Panel: Primary immunodeficiency disorders Phenotypes for gene UNC93B1 were set to Herpes simplex encephalitis, susceptibility to, 1, Herpetic encephalitis (HSE)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene UNC93B1 were set to Herpes simplex encephalitis, susceptibility to, 1

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

UNC93B1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

UNC93B1 was created by Louise Daugherty