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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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree (Sukao et al. 2014, PMID:24599544).
More than 50 unrelated families reported with this condition PMID:24599544).
Created: 3 Feb 2025, 3:49 a.m. | Last Modified: 3 Feb 2025, 3:49 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Johanson-Blizzard syndrome MIM#243800

Publications

Created: 3 Feb 2025, 3:49 a.m.
Last Modified: 3 Feb 2025, 3:49 a.m.
Panel version: 1.1397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Johanson-Blizzard syndrome MIM#243800
OMIM
605981
Clinvar variants
Variants in UBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr1 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome, 243800 (3) to Johanson-Blizzard syndrome MIM#243800

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBR1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Johanson-Blizzard syndrome, 243800 (3) for gene: UBR1

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: UBR1 was added gene: UBR1 was added to Reproductive Carrier Screen_VCGS. 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)