Congenital hyperinsulinism

Gene: UCP2

No list

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

1 review

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

Details

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

History Filter Activity

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