1. Panels
  2. Prepair 1000+
  3. UBA1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: UBA1

Green List (high evidence)
UBA1 (ubiquitin like modifier activating enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000130985
EnsemblGeneIds (GRCh37): ENSG00000130985
OMIM: 314370, Gene2Phenotype
UBA1 is in 10 panels

2 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The UBA1 gene is associated with both AR & somatic conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Spinal muscular atrophy, X-linked 2, infantile MIM#301830 (XL-SMA).

XL-SMA is characterised by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures (arthrogryposis), associated with loss of anterior horn cells and infantile death. More than 10 families reported, functional data. Death usually in infancy due to respiratory failure. Increased spontaneous abortions in carrier mothers (OMIM).

Genotype-phenotype correlation (PMID: 39762237): The mutations identified in SMAX2 patients are located exclusively in exon 15, those identified in VEXAS are outside of the SMAX2 mutation hotspot. However, the principle of the genotype-phenotype correlation remains unclear. No truncation mutation or whole gene deletion have been identified, suggesting that a complete loss of UBA1 activity may be embryonically lethal.
Created: 4 Feb 2025, 11:52 p.m. | Last Modified: 4 Feb 2025, 11:52 p.m.
Panel Version: 1.1456

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinal muscular atrophy, X-linked 2, infantile MIM#301830

Publications

Created: 4 Feb 2025, 11:52 p.m.
Last Modified: 4 Feb 2025, 11:52 p.m.
Panel version: 1.1456

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

X-linked infantile spinal muscular atrophy (XL-SMA) is characterised by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures (arthrogryposis), associated with loss of anterior horn cells and infantile death. More than 10 families reported, functional data.
Created: 19 Jul 2022, 4:26 a.m. | Last Modified: 19 Jul 2022, 4:26 a.m.
Panel Version: 0.50

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinal muscular atrophy, X-linked 2, infantile (MIM#301830)

Publications

Created: 19 Jul 2022, 4:26 a.m.
Last Modified: 19 Jul 2022, 4:26 a.m.
Panel version: 0.50

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
OMIM
314370
Clinvar variants
Variants in UBA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba1 has been classified as Green List (High Evidence).

20 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBA1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBA1 was added gene: UBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)