1. Panels
  2. Growth failure
  3. UBR1
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Growth failure

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Short stature and growth failure are major features of the condition.
Sources: Expert Review
Created: 9 Nov 2022, 11:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Johanson-Blizzard syndrome, MIM# 243800

Created: 9 Nov 2022, 11:40 p.m.

Panel version: 1.50

Details

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

History Filter Activity

9 Nov 2022, 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).

9 Nov 2022, 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).

9 Nov 2022, Gel status: 1

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 Growth failure. Sources: Expert Review Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, MIM# 243800 Review for gene: UBR1 was set to GREEN