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  3. AKR1C2
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Severe early-onset obesity

Gene: AKR1C2

Red List (low evidence)
AKR1C2 (aldo-keto reductase family 1 member C2)
EnsemblGeneIds (GRCh38): ENSG00000151632
EnsemblGeneIds (GRCh37): ENSG00000151632
OMIM: 600450, Gene2Phenotype
AKR1C2 is in 4 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

SNP association evidence in adult cohorts only, not early-onset.

PMID: 33675863. In adipose tissue, AKR1C2 expression is significantly and positively associated with percentage trunk fat mass in women. Paper using SNP associations evidence and GTEx expression data.

PMID: 25322899. Polymorphism associations study for the risk of weight gain in population aged 20-40 years. AKR1C2 associated with long-term weight gain in men.
Created: 3 Nov 2021, 10:21 p.m. | Last Modified: 3 Nov 2021, 10:21 p.m.
Panel Version: 0.71

Mode of inheritance
Unknown

Phenotypes
Obesity

Publications

Created: 3 Nov 2021, 10:21 p.m.
Last Modified: 3 Nov 2021, 10:21 p.m.
Panel version: 0.71

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Obesity
OMIM
600450
Clinvar variants
Variants in AKR1C2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akr1c2 has been classified as Red List (Low Evidence).

3 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKR1C2 were changed from Obesity, hyperphagia, and developmental delay to Obesity

3 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKR1C2 were set to

3 Nov 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AKR1C2 was changed from to Unknown

31 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKR1C2 was added gene: AKR1C2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: AKR1C2 was set to Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay