Disorders of immune dysregulation
Gene: UNC93B1EnsemblGeneIds (GRCh38): ENSG00000110057
EnsemblGeneIds (GRCh37): ENSG00000110057
OMIM: 608204, Gene2Phenotype
UNC93B1 is in 4 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related
Peter McNaughton (Queensland Children's Hospital)
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: LiteratureCreated: 26 Jul 2024, 2:41 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SLE, chilblain lupus
Publications
- PMID: 38869500
Mode of pathogenicity
Other
Lucy Spencer (Victorian Clinical Genetics Services)
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
- PMID: 16973841
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
-
- PMID: 38869500
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: unc93b1 has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: unc93b1 has been classified as Green List (High Evidence).
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