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Mackenzie's Mission_Reproductive Carrier Screening

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

0 reviews

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
Panels with this gene

History Filter Activity

19 Apr 2020, 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 Mackenzie's Mission_Reproductive Carrier Screening. 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)