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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. UBR2
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: UBR2

Red List (low evidence)
UBR2 (ubiquitin protein ligase E3 component n-recognin 2)
EnsemblGeneIds (GRCh38): ENSG00000024048
EnsemblGeneIds (GRCh37): ENSG00000024048
OMIM: 609134, Gene2Phenotype
UBR2 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single POI case with a heterozygous missense variant (p.Ser1615Thr).
Sources: Literature
Created: 6 Dec 2021, 4:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian failure

Publications

Created: 6 Dec 2021, 4:27 a.m.

Panel version: 0.271

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ovarian failure
OMIM
609134
Clinvar variants
Variants in UBR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ubr2 has been classified as Red List (Low Evidence).

6 Dec 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: UBR2 was added gene: UBR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: UBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBR2 were set to 33095795; 34794894 Phenotypes for gene: UBR2 were set to Primary ovarian failure Review for gene: UBR2 was set to RED