Arthrogryposis
Gene: UBA1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 28 Sep 2020, 4:36 a.m. | Last Modified: 28 Sep 2020, 4:36 a.m.

Panel Version: 0.211

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: 28 Sep 2020, 4:36 a.m.
Last Modified: 28 Sep 2020, 4:36 a.m.
Panel version: 0.211

Details

Mode of Inheritance

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

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

314370

Clinvar variants

Variants in UBA1

Penetrance

None

Publications

Panels with this gene