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Lipodystrophy - childhood onset

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

4 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:21 p.m.
Created: 5 Feb 2019, 2:21 p.m.

Panel version: 1.0

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: Imported from Insulin resistance (including lipodystrophy) 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: Imported from Insulin resistance (including lipodystrophy) 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: Imported from Insulin resistance (including lipodystrophy) panel version 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • 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
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Variant

4 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pparg has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: PPARG was added gene: PPARG was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367