Autoinflammatory Disorders
Gene: UBA1
25 men reported with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation, and an often fatal, treatment-refractory inflammatory syndrome develops in late adulthood, with fevers, cytopaenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis.
Sources: LiteratureCreated: 3 Nov 2020, 5:54 a.m.
Mode of inheritance
Other
Phenotypes
Autoinflammatory disease, adult onset; VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054
Publications
Phenotypes for gene: UBA1 were changed from Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to Autoinflammatory disease, adult onset; VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054
Publications for gene: UBA1 were set to
Gene: uba1 has been classified as Green List (High Evidence).
Tag somatic tag was added to gene: UBA1.
Gene: uba1 has been classified as Green List (High Evidence).
gene: UBA1 was added gene: UBA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: UBA1 was set to Other Phenotypes for gene: UBA1 were set to Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) Review for gene: UBA1 was set to GREEN