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Mackenzie's Mission_Reproductive Carrier Screening

Gene: UBR1

Green List (high evidence)

UBR1 (ubiquitin protein ligase E3 component n-recognin 1)
EnsemblGeneIds (GRCh38): ENSG00000159459
EnsemblGeneIds (GRCh37): ENSG00000159459
OMIM: 605981, Gene2Phenotype
UBR1 is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Johanson-Blizzard syndrome, 243800 (3)
OMIM
605981
Clinvar variants
Variants in UBR1
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: UBR1 was added gene: UBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)