Severe early-onset obesity
Gene: KSR2EnsemblGeneIds (GRCh38): ENSG00000171435
EnsemblGeneIds (GRCh37): ENSG00000171435
OMIM: 610737, Gene2Phenotype
KSR2 is in 2 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ksr2 has been classified as Red List (Low Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ksr2 has been classified as Red List (Low Evidence).
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