Monogenic diabetes

Gene: PPARG

Green List (high evidence)

PPARG (peroxisome proliferator activated receptor gamma)
EnsemblGeneIds (GRCh38): ENSG00000132170
EnsemblGeneIds (GRCh37): ENSG00000132170
OMIM: 601487, Gene2Phenotype
PPARG is in 9 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PPARG; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Severe insulin resistance, partial lipodystrophy and diabetes.
Created: 11 Jan 2019, 10:04 a.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to expert review and evidence in OMIM.
Created: 7 Jun 2016, 9:47 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lipodystrophy, familial partial, type 3, 604367
  • FPLD3
  • {Diabetes, type 2}, 125853
  • [Obesity, resistance to]
  • Obesity, severe, 601665
  • Lipodystrophy, familial partial, type 3
  • Insulin resistance, severe, digenic
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
  • Insulin resistance, severe, digenic 604367
  • Insulin resistance, severe, digenic, 604367
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
  • Lipodystrophy, familial partial, type 3 604367
  • Carotid intimal medial thickness 1, 609338
OMIM
601487
Clinvar variants
Variants in PPARG
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PPARG.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Lipodystrophy, familial partial, type 3 for gene: PPARG

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367 for gene: PPARG

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PPARG was added gene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPARG were set to Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; Obesity, severe, 601665; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; [Obesity, resistance to]; Carotid intimal medial thickness 1, 609338