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  3. PPARG
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Familial 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.
Created: 11 Jan 2019, 10:04 a.m.

Panel version: Imported from Monogenic diabetes panel version 0.8

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

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.
Created: 7 Jun 2016, 9:47 a.m.

Panel version: 0.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
  • Lipodystrophy, familial partial, type 3
  • Insulin resistance, severe, digenic
OMIM
601487
Clinvar variants
Variants in PPARG
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PPARG were set to Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Lipodystrophy, familial partial, type 3; Insulin resistance, severe, digenic

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PPARG was added to Familial diabetespanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PPARG was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services