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Mendeliome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 38869500: 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.
Created: 2 Aug 2024, 4:38 a.m. | Last Modified: 2 Aug 2024, 4:38 a.m.
Panel Version: 1.1924
Some supportive functional data. Borderline Amber/Red.
Created: 2 Dec 2021, 5:29 a.m. | Last Modified: 2 Dec 2021, 5:29 a.m.
Panel Version: 0.10000

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1, MIM#610551; Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related

Publications

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1, MIM#610551
  • Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related
OMIM
608204
Clinvar variants
Variants in UNC93B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC93B1 were changed from Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1, MIM#610551; Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related

2 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UNC93B1 were set to 16973841; 29768176

2 Aug 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UNC93B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc93b1 has been classified as Amber List (Moderate Evidence).

2 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1

2 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UNC93B1 were set to

2 Dec 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc93b1 has been classified as Amber List (Moderate Evidence).

2 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc93b1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UNC93B1 was added gene: UNC93B1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UNC93B1 was set to Unknown