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BabyScreen+ newborn screening

Gene: UBR1

Red List (low 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

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Strong gene disease association
Syndromic ID; exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment
No Treatable
Created: 3 Nov 2022, 1:43 a.m. | Last Modified: 3 Nov 2022, 1:43 a.m.
Panel Version: 0.793

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Johanson-Blizzard syndrome MIM#243800

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Johanson-Blizzard syndrome MIM#243800
OMIM
605981
Clinvar variants
Variants in UBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr1 has been classified as Red List (Low Evidence).

3 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Nov 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBR1 were set to

3 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr1 has been classified as Red List (Low Evidence).

18 Sep 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 gNBS. Sources: BabySeq Category A gene,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