Insulin resistance (including lipodystrophy)
Gene: PPARG
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reportedCreated: 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 125853Created: 11 Aug 2016, 10:06 a.m.
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PPARG were set to Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367
Mode of inheritance for PPARG was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene PPARG was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PPARG was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PPARG was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PPARG was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PPARG was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
Model of inheritance for gene PPARG was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PPARG was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
PPARG was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen