Disorders of immune dysregulation
Gene: UNC93B1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related
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
Mode of pathogenicity
Other
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
Gene: unc93b1 has been classified as Green List (High Evidence).
Phenotypes for gene: UNC93B1 were changed from SLE, chilblain lupus to Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related
Gene: unc93b1 has been classified as Green List (High Evidence).
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