Severe early-onset obesity

Gene: KSR2

Red List (low evidence)

KSR2 (kinase suppressor of ras 2)
EnsemblGeneIds (GRCh38): ENSG00000171435
EnsemblGeneIds (GRCh37): ENSG00000171435
OMIM: 610737, Gene2Phenotype
KSR2 is in 2 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 24209692 Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in energy homeostasis. We explored the role of KSR2 in humans by sequencing 2,101 individuals with severe early-onset obesity and 1,536 controls. However, as BMI and additional phenotypic information for individuals in these data sets are not available, the precise contribution of these variants to obesity remains to be established.


PMID: 29273807 GWAS identified KSR2 (13 genes studied) implicated in extreme obesity.
Created: 3 Nov 2021, 3:23 a.m. | Last Modified: 3 Nov 2021, 3:23 a.m.
Panel Version: 0.59

Phenotypes
Obesity

Publications

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • obesity
OMIM
610737
Clinvar variants
Variants in KSR2
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: ksr2 has been classified as Red List (Low Evidence).

3 Nov 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KSR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other

3 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ksr2 has been classified as Red List (Low Evidence).

31 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KSR2 was added gene: KSR2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: KSR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KSR2 were set to 29273807 Phenotypes for gene: KSR2 were set to obesity