Insulin resistance (including lipodystrophy)
Gene: PPARG

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

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial Partial Lipodystrophy Type 3

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reported
Created: 11 Aug 2016, 10:07 a.m.

Comment on phenotypes: Variants also reported in Carotid intimal medial thickness 1 609338, Obesity, severe 601665 and Diabetes, type 2 125853
Created: 11 Aug 2016, 10:06 a.m.

Created: 11 Aug 2016, 10:06 a.m.

Panel version: 0.21

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Insulin resistance, severe, digenic 604367
Lipodystrophy, familial partial, type 3 604367

OMIM

601487

Clinvar variants

Variants in PPARG

Penetrance

Complete

Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PPARG were set to Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367

11 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PPARG was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Aug 2015, Gel status: 3