Congenital Heart Defect
Gene: UBR1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital heart defects (ASD/VSD) are a feature.
Created: 9 Aug 2021, 8:24 a.m. | Last Modified: 9 Aug 2021, 8:24 a.m.

Panel Version: 0.117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Johanson-Blizzard syndrome (MIM#243800)

Created: 9 Aug 2021, 8:24 a.m.
Last Modified: 9 Aug 2021, 8:24 a.m.
Panel version: 0.117

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

>50 unrelated JBS reports (reviewed in PMID: 24599544
Created: 9 Aug 2021, 5:50 a.m. | Last Modified: 9 Aug 2021, 5:50 a.m.

Panel Version: 0.117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Johanson-Blizzard syndrome (MIM#243800)

Publications

PMID: 24599544

Created: 9 Aug 2021, 5:50 a.m.
Last Modified: 9 Aug 2021, 5:50 a.m.
Panel version: 0.117

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Johanson-Blizzard syndrome (MIM#243800)

OMIM

605981

Clinvar variants

Variants in UBR1

Penetrance

None

Publications

24599544

Panels with this gene