Congenital hyperinsulinism
Gene: UCP2Comment 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
Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model).
Sources: Expert listCreated: 14 Feb 2020, 8:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism
Publications
Tag watchlist tag was added to gene: UCP2.
Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: UCP2 were changed from Hyperinsulinism to Hyperinsulinism, MONDO:0002177
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