Disorders of immune dysregulation

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 4 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Rare missense substitutions in UNC93B1 in probands from five unrelated kindreds presenting with early onset SLE (two probands) or CBL (three probands). Clinical, genetic, and functional in vitro and ex vivo data demonstrating changes in TLR7/8 signalling and trafficking.
Sources: Literature
Created: 26 Jul 2024, 2:41 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
SLE, chilblain lupus

Publications

Mode of pathogenicity
Other

Lucy Spencer (Victorian Clinical Genetics Services)

Red List (low evidence)

The only OMIM phenotype is {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}. All variants in Clinvar are VUS.

PMID: 16973841 suggested the gene-disease association. Had 2 patients both homozygous (1 fs the other a splice variant).

A quick review of pubmed shows no other disease associations.
Created: 2 Dec 2021, 2:50 a.m. | Last Modified: 2 Dec 2021, 2:50 a.m.
Panel Version: 0.9993

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related
OMIM
608204
Clinvar variants
Variants in UNC93B1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC93B1 were changed from SLE, chilblain lupus to Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jul 2024, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: UNC93B1 was added gene: UNC93B1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: UNC93B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UNC93B1 were set to PMID: 38869500 Phenotypes for gene: UNC93B1 were set to SLE, chilblain lupus Mode of pathogenicity for gene: UNC93B1 was set to Other Review for gene: UNC93B1 was set to GREEN