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  2. Severe early-onset obesity
  3. PPARG
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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 9 panels

3 reviews

Ismaa Farooqi (University of Cambridge)

Red List (low evidence)

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

Ayesha Ahmed (GEL)

Comment on list classification: see expert comment
Created: 7 Jul 2016, 7:25 a.m.
Created: 7 Jul 2016, 7:25 a.m.

Panel version: 0.62

stephen o'rahilly (university of cambridge)

Red List (low evidence)

LOF mutations cause partial lipodystrophy. The evidence suggesting that some gain of function variants cause obesity is weak
Created: 8 Nov 2015, 5:59 p.m.
LOF mutations in this gene cause a totally different disease, partial lipodystrophy. The suggestion that n terminal mutations may be associated with obesity is based on weak evidence in a single paper
Created: 8 Nov 2015, 5:43 p.m.

Mode of inheritance
Unknown

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 8 Nov 2015, 5:43 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, severe, 601665
  • [Obesity, resistance to]
  • Insulin resistance, severe, digenic, 604367
  • Lipodystrophy, familial partial, type 3, 604367
  • Carotid intimal medial thickness 1, 609338
  • {Diabetes, type 2}, 125853
OMIM
601487
Clinvar variants
Variants in PPARG
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Expert list was added to PPARG.

25 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

7 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Red List (Low Evidence).

7 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Ayesha Ahmed (GEL)

This gene has been classified as Red List (Low Evidence).

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PPARG was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PPARG was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen