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  2. Congenital hyperinsulinism
  3. UCP2
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Congenital hyperinsulinism

Gene: UCP2

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 3 Dec 2021, 2:27 p.m. | Last Modified: 3 Dec 2021, 2:27 p.m.
Panel Version: 2.7
Created: 3 Dec 2021, 2:27 p.m.
Last Modified: 3 Dec 2021, 2:27 p.m.
Panel version: 2.7

Zornitza Stark (Australian Genomics)

I don't know

Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model).
Sources: Expert list
Created: 14 Feb 2020, 8:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism

Publications

Created: 14 Feb 2020, 8:31 a.m.

Panel version: 2.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hyperinsulinism, MONDO:0002177
Tags
watchlist
OMIM
601693
Clinvar variants
Variants in UCP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: UCP2.

3 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ucp2 has been classified as Amber List (Moderate Evidence).

3 Dec 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: UCP2 were changed from Hyperinsulinism to Hyperinsulinism, MONDO:0002177

14 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UCP2 was added gene: UCP2 was added to Congenital hyperinsulinism. Sources: Expert list Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UCP2 were set to 19065272 Phenotypes for gene: UCP2 were set to Hyperinsulinism Review for gene: UCP2 was set to AMBER