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Severe early-onset obesity

Gene: PPARG

Red List (low evidence)
PPARG (peroxisome proliferator activated receptor gamma)
EnsemblGeneIds (GRCh38): ENSG00000132170
EnsemblGeneIds (GRCh37): ENSG00000132170
OMIM: 601487, Gene2Phenotype
PPARG is in 7 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 9753710. In a German obesity cohort, 4 individuals heterozygous for a p.Pro115Gln mutation were markedly more obese than the other 117 obesity participants. Age of the 4 carriers ranged from 32-74 years, not early onset. 3/4 also had type 2 diabetes. In vitro analyses showed a permanent activation of PPARg2 that led to an accelerated rate of adipocyte differentiation and increased fat accumulation in a tissue-culture model of adipogenesis.

PMID: 9425261. In a Caucasian cohort of 26, with type 2 diabetes and many with obesity, missense p.Pro12Ala was identified. This variant has 1977 homozygotes in gnomAD.

PPARG variants known to cause familial partial lipodystrophy.
Created: 4 Nov 2021, 4:56 a.m. | Last Modified: 4 Nov 2021, 4:56 a.m.
Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Obesity, severe, MIM#601665

Publications

Created: 4 Nov 2021, 4:56 a.m.
Last Modified: 4 Nov 2021, 4:56 a.m.
Panel version: 0.74

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Obesity, severe, MIM#601665
OMIM
601487
Clinvar variants
Variants in PPARG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPARG were changed from [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338 to Obesity, severe, MIM#601665

4 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPARG were set to

4 Nov 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPARG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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: PPARG was added gene: PPARG was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPARG were set to [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338