Hyperinsulinism

Gene: UCP2

Amber List (moderate evidence)

UCP2 (uncoupling protein 2)
EnsemblGeneIds (GRCh38): ENSG00000175567
EnsemblGeneIds (GRCh37): ENSG00000175567
OMIM: 601693, Gene2Phenotype
UCP2 is in 4 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

I don't know

PMID: 28681398
Analysis of large scale sequencing cohort data does not support the role of variants in UCP2 as a monogenic cause of HH

PMID: 27967291
5 unrelated children with diazoxide-responsive congenital hyperinsulinism and heterozygous UCP2 mutations (out of cohort of 211). Among the 5 cases, 4 unique mutations (3 missense and 1 splicing) were identified. In vitro functional assays showed 30% to 75% decrease in UCP2 activity. 4 relatives with a UCP2 variant had unusual glucose and insulin responses to oral glucose, none of the family members had received a clinical diagnosis of HH prior to the study.

PMID: 23275527
2 unrelated children with heterozygous UCP2 mutations

PMID: 19065272
2 unrelated children reported with with heterozygous UCP2 mutations (inherited from parent). UCP2 knockout mice exhibit an hyperinsulinemic hypoglycemia, suggesting an involvement of UCP2 in insulin secretion. Functional assays in yeast and in insulin-secreting cells revealed an impaired activity of UCP2 mutants.
Created: 14 May 2024, 4:34 a.m. | Last Modified: 14 May 2024, 4:34 a.m.
Panel Version: 1.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital hyperinsulinism

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model).
Created: 14 Feb 2020, 4:20 a.m. | Last Modified: 14 Feb 2020, 4:20 a.m.
Panel Version: 0.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism
OMIM
601693
Clinvar variants
Variants in UCP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UCP2 were changed from to Hyperinsulinism

14 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UCP2 were set to

14 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UCP2 was added gene: UCP2 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UCP2 was set to Unknown