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Primary immunodeficiency

Gene: UBA1

Red List (low evidence)

UBA1 (ubiquitin like modifier activating enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Relevant phenotype but rating Red as this panel is not appropriate for somatic variant detection due to the coverage and therefore variants are unlikely to be picked up by our current pipeline (added 'somatic' tag).
Created: 24 Nov 2020, 12:05 p.m. | Last Modified: 24 Nov 2020, 12:05 p.m.
Panel Version: 2.374

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Literature
Created: 4 Nov 2020, 9:50 a.m.

Mode of inheritance
Other

Phenotypes
Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)

Publications

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
Phenotypes
  • VEXAS syndrome, somatic, OMIM:301054
Tags
somatic
OMIM
314370
Clinvar variants
Variants in UBA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: uba1 has been classified as Red List (Low Evidence).

24 Nov 2020, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: uba1 has been removed from the panel.

24 Nov 2020, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UBA1 were changed from Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to VEXAS syndrome, somatic, OMIM:301054

24 Nov 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag somatic tag was added to gene: UBA1.

4 Nov 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: UBA1 was added gene: UBA1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: UBA1 was set to Other Publications for gene: UBA1 were set to 33108101 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