Autoinflammatory disorders
Gene: UBA1

UBA1 (ubiquitin like modifier activating enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 6 panels

2 reviews

Dorota Rowczenio (Royal Free London NHS Trust)

Green List (high evidence)

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome is observed in males, manifesting in the fifth decade of life or later, characterized by systemic inflammation and progressive bone marrow failure. Common inflammatory features include fever, chondritis, vasculitis, neutrophilic dermatosis and sterile alveolitis.
VEXAS is caused by loss of function somatic mutations in the UBA1 gene.
Created: 18 Oct 2023, 5:08 p.m. | Last Modified: 18 Oct 2023, 5:08 p.m.

Panel Version: 1.1

Mode of inheritance
Other

Phenotypes
ever; chondritis; vasculitis; neutrophilic dermatosis; sterile alveolitis; progressive bone marrow failure; cytopenia

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Oct 2023, 5:08 p.m.
Last Modified: 18 Oct 2023, 5:08 p.m.
Panel version: 1.1

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Following further discussions with the GMS specialist group, it was agreed that the coverage of this test does include somatic variant detection. Therefore, the rating of this gene has been updated to green and the mode of inheritance set to "Other" following NHS Genomic Medicine Service approval.
Created: 29 Nov 2023, 2:11 p.m. | Last Modified: 29 Nov 2023, 2:11 p.m.

Panel Version: 1.10

Added 'to_be_confirmed_NHSE' tag - gene to be further discussed due to somatic pathogenesis
Created: 16 Feb 2022, 11:37 a.m. | Last Modified: 16 Feb 2022, 11:37 a.m.

Panel Version: 0.32

Somatic variants (mostly at the M41 residue) cause an autoinflammatory disorder named VEXAS which exclusively affects men, with the exception of two female patients identified to date who acquired X monosomy in the bone marrow karyotype. Sufficient cases described in literature to support a gene-disease association but coverage of this test for somatic variant detection should be discussed with the test evaluation group prior to inclusion of UBA1 on this panel.
Created: 11 Jan 2022, 2:50 p.m. | Last Modified: 11 Jan 2022, 2:50 p.m.

Panel Version: 0.7

Phenotypes
VEXAS syndrome, somatic, OMIM:301054

Publications

Created: 11 Jan 2022, 2:50 p.m.
Last Modified: 11 Jan 2022, 2:50 p.m.
Panel version: 0.32

Details

Mode of Inheritance

Other

Sources

Expert Review Green
NHS GMS

Phenotypes

VEXAS syndrome, somatic, OMIM:301054

Tags

somatic

OMIM

314370

Clinvar variants

Variants in UBA1

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene