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Newborns main panel

Gene: UCP2

Red List (low evidence)
UCP2 (uncoupling protein 2)
EnsemblGeneIds (GRCh38): ENSG00000175567
EnsemblGeneIds (GRCh37): ENSG00000175567
OMIM: 601693, Gene2Phenotype
UCP2 is in 1 panel

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 28681398 - against association. PMID: 27967291 - 5 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • UCP2 associated hyperinsulinism
OMIM
601693
Clinvar variants
Variants in UCP2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to UCP2. Added phenotypes UCP2 associated hyperinsulinism for gene: UCP2 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to UCP2. Added phenotypes UCP2 associated hyperinsulinism for gene: UCP2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to UCP2. Added phenotypes UCP2 associated hyperinsulinism for gene: UCP2 Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes UCP2 associated hyperinsulinism for gene: UCP2

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: UCP2 was added gene: UCP2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown