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BabyScreen+ newborn screening

Gene: UCP2

Red List (low evidence)

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Amber in our mendeliome
No OMIM listed monogenic disease association
Gene reviews references a paper that DOES NOT support this as a monogenic cause of hyperinsulinism
not enough evidence
Created: 16 Mar 2023, 3:28 a.m. | Last Modified: 16 Mar 2023, 3:28 a.m.
Panel Version: 0.1982

Phenotypes
UCP2 associated hyperinsulinism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
  • BeginNGS
Phenotypes
  • Hyperinsulinism, ORPHA:276556
  • Hyperinsulinism
OMIM
601693
Clinvar variants
Variants in UCP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ucp2 has been classified as Red List (Low Evidence).

16 Mar 2023, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UCP2 were set to

18 Sep 2022, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to UCP2. Source BabySeq Category C gene was added to UCP2. Added phenotypes Hyperinsulinism for gene: UCP2 Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UCP2 was added gene: UCP2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UCP2 were set to Hyperinsulinism, ORPHA:276556